Articoli di riviste: "Scas15"

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Silva, Iago Castro da, Eveson Oscar Almeida Conceição, Daniel Santiago Pereira, Hervé Rogez e Nilton Akio Muto. "Evaluation of the Antimicrobial Capacity of Bacteria Isolated from Stingless Bee (Scaptotrigona aff. postica) Honey Cultivated in Açai (Euterpe oleracea) Monoculture". Antibiotics 12, n. 2 (20 gennaio 2023): 223. http://dx.doi.org/10.3390/antibiotics12020223.

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Many antimicrobial compounds have been seeking to protect the human body against pathogenic microbial infections. In recent times, there has been considerable growth of pathogens resistant to existing drugs due to the inappropriate use of antibiotics. In the present study, bacteria isolated from the honey of stingless bees native to the Amazon called Scaptotrigona aff. postica and Apis mellifera were used to determine their potential antimicrobial properties and characterize the medium cultivated with isolated bacteria. The results showed inhibition of nine isolates. Among these isolates, SCA12, SCA13, and SCA15 showed inhibitory activity similar to that of vancomycin, which was used as a positive control. The SCA13 strain obtained the best results with antimicrobial extract against the tested pathogens; the species was identified as Enterococcus faecalis, and its lyophilized extract was characterized by temperature, pH, and trypsin, in which they showed antimicrobial activity. This work shows that bacteria isolated from the stingless bee honey, Scaptotrigona aff. postica, have the potential to produce antimicrobial substances.

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Gardner, R. J. M. ""SCA16" is really SCA15". Journal of Medical Genetics 45, n. 3 (22 ottobre 2007): 192. http://dx.doi.org/10.1136/jmg.2007.056341.

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Kaur, Jaslovleen, Shaista Parveen, Uzma Shamim, Pooja Sharma, Varun Suroliya, Akhilesh Kumar Sonkar, Istaq Ahmad et al. "Investigations of Huntington’s Disease and Huntington’s Disease-Like Syndromes in Indian Choreatic Patients". Journal of Huntington's Disease 9, n. 3 (8 ottobre 2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.

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Background: The diagnostic workup for choreiform movement disorders including Huntington’s disease (HD) and those mimicking HD like phenotype is complex. Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. Materials and methods: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion. Results: 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41– 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion. Conclusion: We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.

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Seixas, Ana I., Martin H. Maurer, Mark Lin, Colleen Callahan, Alka Ahuja, Tohru Matsuura, Christopher A. Ross, Fuki M. Hisama, Isabel Silveira e Russell L. Margolis. "FXTAS, SCA10, and SCA17 in American patients with movement disorders". American Journal of Medical Genetics Part A 136A, n. 1 (2005): 87–89. http://dx.doi.org/10.1002/ajmg.a.30761.

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Ghanem, Mustafa H., Andrew J. Shih, Himanshu Vashistha, Latanya N. Coke, Wentian Li, Sun Jung Kim, Kim R. Simpfendorfer e Peter K. Gregersen. "Investigations into SCAMP5, a candidate lupus risk gene expressed in plasmacytoid dendritic cells". Lupus Science & Medicine 8, n. 1 (novembre 2021): e000567. http://dx.doi.org/10.1136/lupus-2021-000567.

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ObjectiveWe have investigated the molecular function of SCAMP5, a candidate risk gene for SLE exclusively expressed in plasmacytoid dendritic cells (pDCs) among peripheral leucocytes.MethodsWe tested the independence of the association in SCAMP5 with SLE by performing conditional analyses. We profiled the expression pattern of SCAMP5 among circulating leucocytes at the transcript and protein levels. Using lentiviral vectors, we localised the subcellular distribution of SCAMP5 alongside the interferon secretory pathway. We analysed pDCs for the expression of SCAMP5 and interferon production capacity by SCAMP5 genotype. Finally, we examined pDC-specific SCAMP5 isoforms by total RNAseq analysis and examined for genotype-associated quantitative differences therein.ResultsA conditional analysis revealed evidence of an independent genetic association of SCAMP5 with SLE. Among circulating leucocytes, SCAMP5 is uniquely expressed in pDCs at the transcript and protein levels, with main presence in the Golgi apparatus and minor presence at the cell periphery. In live cells, SCAMP5 displayed dynamic Golgi-cell surface trafficking and localised with the interferon secretory pathway. SCAMP5 did not differ in expression levels in pDCs between genotyped donors; however, a transient interferon secretory defect was noted in pDCs from donors carrying the risk genotype.ConclusionsSCAMP5 constitutes a novel SLE risk gene on the basis of genomic data and expression in a cell type widely implicated in SLE pathogenesis. While we could not find evidence of quantitative expression differences in SCAMP5 between genotyped donors, SCAMP5 remains an attractive gene to explore given its highly restricted expression pattern and colocalisation with interferon secretion.

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Pouw, Juliëtte N., Michel A. M. Olde Nordkamp, Tom G. O'Toole, Timothy R. D. J. Radstake, Emmerik F. A. Leijten e Marianne Boes. "Activation-induced colocalisation of SCAMP5 with IFNα in human plasmacytoid dendritic cells". Lupus Science & Medicine 9, n. 1 (marzo 2022): e000680. http://dx.doi.org/10.1136/lupus-2022-000680.

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IntroductionPlasmacytoid dendritic cells (pDCs) are the main producers of type I interferon (IFN) in SLE. pDCs express high secretory carrier membrane protein 5 (SCAMP5). Recent work in transfected HEK cells connects SCAMP5 to the type I IFN secretory pathway. To further study the role of SCAMP5 in IFNα secretion by pDCs, we focused on the subcellular distribution of SCAMP5 in human pDCs freshly isolated from peripheral blood.MethodsWe measured SCAMP5 expression by flow cytometry in peripheral blood mononuclear cells of healthy subjects (n=8). Next, we assessed the colocalisation of SCAMP5 with IFNα in pDCs of healthy subjects (n=4) by evaluating bright detail similarity (BDS) scores using ImageStream technology.ResultsWe confirm that SCAMP5 is highly expressed by pDCs derived from peripheral blood. In activated pDCs, we show that SCAMP5 colocalises with IFNα (mean BDS 2.0±0.1; BDS >2.0 in 44% of pDCs).ConclusionSCAMP5 colocalises with IFNα in activated human pDCs, in support of a role of this trafficking protein in the secretion of type I IFN by pDCs.

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Flockerzi, Fidelis Andrea, Johannes Hohneck, Matthias Saar, Rainer Maria Bohle e Phillip Rolf Stahl. "SCARA5 Is Overexpressed in Prostate Cancer and Linked to Poor Prognosis". Diagnostics 13, n. 13 (29 giugno 2023): 2211. http://dx.doi.org/10.3390/diagnostics13132211.

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Prostate cancer is one of the most common malignancies worldwide, showing a wide range of clinical behaviors. Therefore, several treatment options arise out of the diagnosis “prostate cancer”. For this reason, it is desirable to find novel prognostic and predictive markers. In former studies, we showed that THSD7A expression is associated with unfavorable prognostic parameters in prostate cancer and is linked to a high expression of focal adhesion kinase (FAK). Recently, scavenger receptor class A member 5 (SCARA5) was reported to be the downstream gene of THSD7A in esophageal squamous cell carcinoma. SCARA5 is believed to play an important role in the development and progression of several different tumor types. Most studies describe SCARA5 as a tumor suppressor. There is also evidence that SCARA 5 interacts with FAK. To examine the role of SCARA5 as a potential biomarker in prostate cancer, a total of 461 prostate cancers were analyzed via immunohistochemistry using tissue microarrays. Furthermore, we compared the expression level of SCARA5 with our previously collected data on THSD7A and FAK. High SCARA5 expression was associated with advanced tumor stage (p < 0.001), positive nodal status (p < 0.001) and high Gleason-score (p < 0.001). At least, strongly SCARA5-positive cancers were associated with THSD7A-positivity. There was no significant association between SCARA5 expression level and FAK expression level. To our knowledge, we are the first to investigate the role of SCARA5 in prostate cancer and we demonstrated that SCARA5 might be a potential biomarker in prostate cancer.

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Flockerzi, Fidelis Andrea, Johannes Hohneck, Frank Langer, Wolfgang Tränkenschuh e Phillip Rolf Stahl. "The Role of SCARA5 as a Potential Biomarker in Squamous Cell Carcinoma of the Lung". International Journal of Molecular Sciences 25, n. 13 (4 luglio 2024): 7355. http://dx.doi.org/10.3390/ijms25137355.

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Lung cancer is the leading cause of cancer-related deaths in the western world. Squamous cell carcinoma is one of the most common histological subtypes of this malignancy. For squamous cell carcinoma of the lung (LSCC), prognostic and predictive markers still are largely missing. In a previous study, we were able to show that the expression of THSD7A shows an association with unfavorable prognostic parameters in prostate cancer. There is also a link to a high expression of FAK. There is incidence that SCARA5 might be the downstream gene of THSD7A. Furthermore, there is evidence that SCARA5 interacts with FAK. We were interested in the role of SCARA5 as a potential biomarker in LSCC. Furthermore, we wanted to know whether SCARA5 expression is linked to THSD7A positivity and to the expression level of FAK. For this reason, we analyzed 101 LSCC tumors by immunohistochemistry. Tissue microarrays were utilized. No significant association was found between SCARA5 expression and overall survival or clinicopathological parameters. There was also no significant association between THSD7A positivity and SCARA5 expression level. Moreover, no significant association was found between FAK expression level and SCARA5 expression level. SCARA5 seems not to play a major role as a biomarker in squamous cell carcinoma of the lung.

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Yousaf, Hammad, Ambrin Fatima, Zafar Ali, Shahid M. Baig, Mathias Toft e Zafar Iqbal. "A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family". Genes 13, n. 9 (17 settembre 2022): 1667. http://dx.doi.org/10.3390/genes13091667.

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Background and objectives: Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an ultra-rare disorder characterized by slowly progressive cerebellar ataxia, cognitive deficiencies, and skeletal and oculomotor abnormalities. The objective of this case report is to expand the clinical and molecular spectrum of SCAR13. Methods: We investigated a consanguineous Pakistani family with four patients partially presenting with clinical features of SCAR13 using whole exome sequencing. Segregation analysis was performed by Sanger sequencing in all the available individuals of the family. Results: Patients presented with quadrupedal gait, delayed developmental milestones, non-progressive peripheral neuropathy, and cognitive impairment. Whole exome sequencing identified a novel pathogenic nonsense homozygous variant, Gly240*, in the gene GRM1 as a cause of SCAR13 that segregates with the recessive disease. Discussion: We report a novel homozygous nonsense variant in the GRM1 gene in four Pakistani patients presenting with clinical features that partially overlap with the already reported phenotype of SCAR13. In addition, the family presented quadrupedal gait and non-progressive symptoms, manifestations which have not been recognized previously. So far, only four variants in GRM1 have been reported, in families of Roma, Iranian, and Tunisian origins. The current study adds to the mutation spectrum of GRM1 and provides a rare presentation of SCAR13, the first from the Pakistani population.

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Lee, Unghwi, Chunghon Choi, Seung Hyun Ryu, Daehun Park, Sang-Eun Lee, Kitae Kim, Yujin Kim e Sunghoe Chang. "SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses". Proceedings of the National Academy of Sciences 118, n. 2 (28 dicembre 2020): e2011371118. http://dx.doi.org/10.1073/pnas.2011371118.

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Glutamate uptake into synaptic vesicles (SVs) depends on cation/H+ exchange activity, which converts the chemical gradient (ΔpH) into membrane potential (Δψ) across the SV membrane at the presynaptic terminals. Thus, the proper recruitment of cation/H+ exchanger to SVs is important in determining glutamate quantal size, yet little is known about its localization mechanism. Here, we found that secretory carrier membrane protein 5 (SCAMP5) interacted with the cation/H+ exchanger NHE6, and this interaction regulated NHE6 recruitment to glutamatergic presynaptic terminals. Protein–protein interaction analysis with truncated constructs revealed that the 2/3 loop domain of SCAMP5 is directly associated with the C-terminal region of NHE6. The use of optical imaging and electrophysiological recording showed that small hairpin RNA–mediated knockdown (KD) of SCAMP5 or perturbation of SCAMP5/NHE6 interaction markedly inhibited axonal trafficking and the presynaptic localization of NHE6, leading to hyperacidification of SVs and a reduction in the quantal size of glutamate release. Knockout of NHE6 occluded the effect of SCAMP5 KD without causing additional defects. Together, our results reveal that as a key regulator of axonal trafficking and synaptic localization of NHE6, SCAMP5 could adjust presynaptic strength by regulating quantal size at glutamatergic synapses. Since both proteins are autism candidate genes, the reduced quantal size by interrupting their interaction may underscore synaptic dysfunction observed in autism.

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Ganesamoorthy, Devika, Damien L. Bruno, Jacqueline Schoumans, Elsdon Storey, Martin B. Delatycki, Danqing Zhu, Morgan K. Wei, Garth A. Nicholson, R. J. McKinlay Gardner e Howard R. Slater. "Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15". Clinical Chemistry 55, n. 7 (1 luglio 2009): 1415–18. http://dx.doi.org/10.1373/clinchem.2009.124958.

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Abstract Background: Spinocerebellar ataxia type 15 (SCA15) is a slowly progressive neurodegenerative disorder characterized by cerebellar ataxia. Mutation of the ITPR1 gene (inositol 1,4,5-triphosphate receptor, type 1) has been identified recently as the underlying cause, and in most cases the molecular defect is a multiexon deletion. To date, 5 different SCA15 families have been identified with ITPR1 gene deletion. Methods: We have designed a synthetic, dual-color multiplex ligation-dependent probe amplification (MLPA) assay that measures copy number with high precision in selected exons across the entire length of ITPR1 and the proximal region of the neighboring gene, SUMF1 (sulfatase modifying factor 1). We screened 189 idiopathic ataxic patients with this MLPA assay. Results: We identified ITPR1 deletion of exons 1–10 in the previously reported AUS1 family (4 members) and deletion of exons 1–38 in a new family (2 members). In addition to the multiexon deletions, apparent single-exon deletions identified in 2 other patients were subsequently shown to be due to single-nucleotide changes at the ligation sites. Conclusions: The frequency of ITPR1 deletions is 2.7% in known familial cases. This finding suggests that SCA15 is one of the “less common” SCAs. Although the deletions in the 5 families identified worldwide thus far have been of differing sizes, all share deletion of exons 1–10. This region may be important, both in terms of the underlying pathogenetic mechanism and as a pragmatic target for an accurate, robust, and cost-effective diagnostic analysis.

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Yu, Bowen, Chen Cheng, Yichun Wu, Luqiang Guo, Dandan Kong, Ze Zhang, Yuanyuan Wang, Enlin Zheng, Yingbin Liu e Yongning He. "Interactions of ferritin with scavenger receptor class A members". Journal of Biological Chemistry 295, n. 46 (9 settembre 2020): 15727–41. http://dx.doi.org/10.1074/jbc.ra120.014690.

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Scavenger receptors are a superfamily of membrane-bound receptors that recognize both self and nonself targets. Scavenger receptor class A (SR-A) has five known members (SCARA1 to -5 or SR-A1 to -A5), which are type II transmembrane proteins that form homotrimers on the cell surface. SR-A members recognize various ligands and are involved in multiple biological pathways. Among them, SCARA5 can function as a ferritin receptor; however, the interaction between SCARA5 and ferritin has not been fully characterized. Here, we determine the crystal structures of the C-terminal scavenger receptor cysteine-rich (SRCR) domain of both human and mouse SCARA5 at 1.7 and 2.5 Å resolution, respectively, revealing three Ca2+-binding sites on the surface. Using biochemical assays, we show that the SRCR domain of SCARA5 recognizes ferritin in a Ca2+-dependent manner, and both L- and H-ferritin can be recognized by SCARA5 through the SRCR domain. Furthermore, the potential binding region of SCARA5 on the surface of ferritin is explored by mutagenesis studies. We also examine the interactions of ferritin with other SR-A members and find that SCARA1 (SR-A1, CD204) and MARCO (SR-A2, SCARA2), which are highly expressed on macrophages, also interact with ferritin. By contrast, SCARA3 and SCARA4, the two SR-A members without the SRCR domain, have no detectable binding with ferritin. Overall, these results provide a mechanistic view regarding the interactions between the SR-A members and ferritin that may help to understand the regulation of ferritin homeostasis by scavenger receptors.

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Pakdaman, Yasaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power et al. "Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16". International Journal of Molecular Sciences 22, n. 11 (30 maggio 2021): 5870. http://dx.doi.org/10.3390/ijms22115870.

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Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar cognitive affective syndrome and varying clinical overlap with SCAR16. However, little is known about the molecular properties of dominant STUB1 variants. Here, we describe three SCA48 families with novel, dominantly inherited STUB1 variants (p.Arg51_Ile53delinsProAla, p.Lys143_Trp147del, and p.Gly249Val). All the patients developed symptoms from 30 years of age or later, all had cerebellar atrophy, and 4 had cognitive/psychiatric phenotypes. Investigation of the structural and functional consequences of the recombinant C-terminus of HSC70-interacting protein (CHIP) variants was performed in vitro using ubiquitin ligase activity assay, circular dichroism assay and native polyacrylamide gel electrophoresis. These studies revealed that dominantly and recessively inherited STUB1 variants showed similar biochemical defects, including impaired ubiquitin ligase activity and altered oligomerization properties of the CHIP. Our findings expand the molecular understanding of SCA48 but also mean that assumptions concerning unaffected carriers of recessive STUB1 variants in SCAR16 families must be re-evaluated. More investigations are needed to verify the disease status of SCAR16 heterozygotes and elucidate the molecular relationship between SCA48 and SCAR16 diseases.

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Schuster, S., E. Heuten, A. Velic, J. Admard, M. Synofzik, S. Ossowski, B. Macek, S. Hauser e L. Schöls. "CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons". Disease Models & Mechanisms 13, n. 10 (1 ottobre 2020): dmm045096. http://dx.doi.org/10.1242/dmm.045096.

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ABSTRACTC-terminus of HSC70-interacting protein (CHIP) encoded by the gene STUB1 is a co-chaperone and E3 ligase that acts as a key regulator of cellular protein homeostasis. Mutations in STUB1 cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16) with widespread neurodegeneration manifesting as spastic-ataxic gait disorder, dementia and epilepsy. CHIP−/− mice display severe cerebellar atrophy, show high perinatal lethality and impaired heat stress tolerance. To decipher the pathomechanism underlying SCAR16, we investigated the heat shock response (HSR) in primary fibroblasts of three SCAR16 patients. We found impaired HSR induction and recovery compared to healthy controls. HSPA1A/B transcript levels (coding for HSP70) were reduced upon heat shock but HSP70 remained higher upon recovery in patient- compared to control-fibroblasts. As SCAR16 primarily affects the central nervous system we next investigated the HSR in cortical neurons (CNs) derived from induced pluripotent stem cells of SCAR16 patients. We found CNs of patients and controls to be surprisingly resistant to heat stress with high basal levels of HSP70 compared to fibroblasts. Although heat stress resulted in strong transcript level increases of many HSPs, this did not translate into higher HSP70 protein levels upon heat shock, independent of STUB1 mutations. Furthermore, STUB1(−/−) neurons generated by CRISPR/Cas9-mediated genome editing from an isogenic healthy control line showed a similar HSR to patients. Proteomic analysis of CNs showed dysfunctional protein (re)folding and higher basal oxidative stress levels in patients. Our results question the role of impaired HSR in SCAR16 neuropathology and highlight the need for careful selection of proper cell types for modeling human diseases.

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Yu, Yanqiu, Joyce Hoi-Yuk Ng, Anise M. S. Wu, Juliet Honglei Chen, Deborah Baofeng Wang, Guohua Zhang, Mengni Du, Dajin Du, Mingxuan Du e Joseph T. F. Lau. "Psychometric Properties of the Abbreviated Version of the Dual School Climate and School Identification Measure–Student (SCASIM-St15) among Adolescents in China". International Journal of Environmental Research and Public Health 19, n. 24 (9 dicembre 2022): 16535. http://dx.doi.org/10.3390/ijerph192416535.

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School climate and school identification are two distinct yet closely interrelated components of school environment; both are associated with adolescents’ multiple health behavioral changes. The 15-item Abbreviated version of the Dual School Climate and School Identification Measure–Student (SCASIM-St15) and its 5-factor model simultaneously and separately assess these two constructs. This study validated the Chinese version of SCASIM-St15 among 1108 students from junior middle schools, senior middle schools, and vocational high schools in Taizhou city, Zhejiang, China, via an anonymous, self-administered cross-sectional survey. Confirmatory factor analysis supports the 5-factor model of the original SCASIM-St15 with a satisfactory model fit. Its four factors (i.e., student–student relations, staff–student relations, academic emphasis, and shared values and approach) assess school climate; its fifth factor assesses school identification. The subscales of the SCASIM-St15 demonstrate good psychometric properties, including measurement invariance (across sex and school type), good internal consistency, an absence of floor effect, and good external validity with four external variables (depression, peer victimization, classmate support, and teacher–student relationship). However, some substantial ceiling effects were observed. The five subscales differ significantly across the school types but not between males and females. The validated SCASIM-St15 can be applied to simultaneously understand school climate/school identification among Chinese adolescents, which may greatly facilitate future related observational and intervention research.

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Cagnoli, Claudia, Chiara Michielotto, Tohru Matsuura, Tetsuo Ashizawa, Russell L. Margolis, Susan E. Holmes, Cinzia Gellera, Nicola Migone e Alfredo Brusco. "Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay". Journal of Molecular Diagnostics 6, n. 2 (maggio 2004): 96–100. http://dx.doi.org/10.1016/s1525-1578(10)60496-5.

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Jumai, Kawuli, Tangjuan Zhang, Bingzhang Qiao, Julaiti Ainiwaer, Haiping Zhang, Zhichao Hou, Idris Awut, Madinyat Niyaz, Liwei Zhang e Ilyar Sheyhidin. "Highly Expressing SCARA5 Promotes Proliferation and Migration of Esophageal Squamous Cell Carcinoma". Journal of Immunology Research 2022 (17 giugno 2022): 1–21. http://dx.doi.org/10.1155/2022/2555647.

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Background. Thrombospondin type 1 domain-containing 7A (THSD7A) was reported to play a procancer role in esophageal squamous cell carcinoma (ESCC). The aim of the study was to screen the downstream functional genes of THSD7A and explore their functions in ESCC, based on the reported research into THSD7A function and on gene microarrays. Methods. We adopted quantitative reverse-transcription polymerase chain reaction (qRT-PCR) and Celigo high-content screening (HCS) technology to screen the downstream genes of THSD7A. The expression level of target genes was examined by PCR, western blot, and immunohistochemistry (IHC). The effects of these target genes on ESCC malignant biological behavior were performed in vivo and in vitro. The Kaplan-Meier (K-M) survival analysis and Cox regression were used to analyze the prognostic significance of target genes in ESCC patients. Experiments in the literature on liver cancer (LC) were repeated to verify the functions of these genes in different tumors. We further explored the cancer-promoting mechanism of target genes in ESCC by sequencing of the genes’ exons. Results. Scavenger receptor class A member 5 (SCARA5) was proved to be the downstream driving gene of THSD7A. SCARA5 promoted cell proliferation and migration but inhibited apoptosis in ESCC. IHC results confirmed that SCARA5 expression in ESCC exceeded that in normal tissues. The K-M survival analysis indicated that SCARA5 expression quantity was not related to prognosis, but tumor volume and T classification were both the independent prognostic factors. Repetition of experiments in LC in the literature confirmed that SCARA5 had exactly opposite functions in EC and LC. Conclusion. SCARA5 was related to the development and occurrence of ESCC. Our findings suggested that it was a potentially diagnostic individualized therapeutic target for ESCC in the future and that its application could possibly be combined with that of upstream THSD7A gene.

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Waters, M. F., e S. M. Pulst. "SCA13". Cerebellum 7, n. 2 (giugno 2008): 165–69. http://dx.doi.org/10.1007/s12311-008-0039-7.

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Amato, Davide, Fabio Canneva, Huu Phuc Nguyen, Peter Bauer, Olaf Riess, Stephan von Hörsten e Christian P. Müller. "Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat". Journal of Psychopharmacology 31, n. 4 (10 novembre 2016): 461–73. http://dx.doi.org/10.1177/0269881116675510.

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Rationale: The polyglutamine disease spinocerebellar ataxia type 17 (SCA17) is a neurodegenerative disease leading to severe neurological symptoms during development. Additionally, patients affected by SCA17 display psychosis earlier than their motor disorders. Objective: Here the putative psychotic phenotype and endophenotype of transgenic SCA17 rats was examined. Methods: The expression of schizophrenia-like symptoms was evaluated over a longitudinal period before and after the onset of neurological symptoms in SCA17. To this end, transgenic SCA17 rats’ monoamine neurotransmission was investigated along with their locomotion at baseline and in response to amphetamine using in-vivo microdialysis in free moving conditions, their sensorimotor gating using pre-pulse inhibition of startle reaction, and their object memory using the novel object recognition test as an index of cognitive impairments. Results: Presymptomatic SCA17 rats displayed dysregulated monoamine levels at baseline and in response to amphetamine compared with control wild-type (wt) rats. At that stage, neither amphetamine-induced hyperlocomotion nor sensorimotor gating differed from that in wt rats. Symptomatic SCA17 rats developed sensorimotor gating deficits and also showed an impaired object memory, while their monoaminergic responses remained supersensitive to amphetamine. Conclusions: The data of the present study demonstrate a neurochemical endophenotype in SCA17 rats resembling that of prodromal schizophrenia. These findings suggest that a sensitization of the monoamine systems arises early in adulthood in SCA17 rats and may predispose them to express schizophrenia-like symptoms later in life.

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Romaniello, Romina, Ludovica Pasca, Elena Panzeri, Fulvio D’Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini et al. "Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders". International Journal of Molecular Sciences 23, n. 12 (16 giugno 2022): 6723. http://dx.doi.org/10.3390/ijms23126723.

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The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome. Cerebellar atrophy/hypoplasia is invariably detected, but a recognizable neuroradiological pattern has not been identified yet. With the aim of describing ITPR1-related neuroimaging findings, the brain MRI of 14 patients with ITPR1 variants (11 SCA29, 1 SCA15, and 2 Gillespie) were reviewed by expert neuroradiologists. To further evaluate the role of superior vermian and hemispheric cerebellar atrophy as a clue for the diagnosis of ITPR1-related conditions, the ITPR1 gene was sequenced in 5 patients with similar MRI pattern, detecting pathogenic variants in 4 of them. Considering the whole cohort, a distinctive neuroradiological pattern consisting in superior vermian and hemispheric cerebellar atrophy was identified in 83% patients with causative ITPR1 variants, suggesting this MRI finding could represent a hallmark for ITPR1-related disorders.

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Paucar, Martin, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson et al. "V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations". Neurology Genetics 7, n. 1 (6 gennaio 2021): e546. http://dx.doi.org/10.1212/nxg.0000000000000546.

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ObjectiveAtaxia channelopathies share common features such as slow motor progression and variable degrees of cognitive dysfunction. Mutations in potassium voltage-gated channel subfamily D member 3 (KCND3), encoding the K+ channel, Kv4.3, are associated with spinocerebellar ataxia (SCA) 19, allelic with SCA22. Mutations in potassium voltage-gated channel subfamily C member 3 (KCNC3), encoding another K+ channel, Kv3.3, cause SCA13. First, a comprehensive phenotype assessment was carried out in a family with autosomal dominant ataxia harboring 2 genetic variants in KCNC3 and KCND3. To evaluate the physiological impact of these variants on channel currents, in vitro studies were performed.MethodsClinical and psychometric evaluations, neuroimaging, and genotyping of a family (mother and son) affected by ataxia were carried out. Heterozygous and homozygous Kv3.3 A671V and Kv4.3 V374A variants were evaluated in Xenopus laevis oocytes using 2-electrode voltage-clamp. The influence of Kv4 conductance on neuronal activity was investigated computationally using a Purkinje neuron model.ResultsThe main clinical findings were consistent with adult-onset ataxia with cognitive dysfunction and acetazolamide-responsive paroxysmal motor exacerbations in the index case. Despite cognitive deficits, fluorodeoxyglucose (FDG)-PET displayed hypometabolism mainly in the severely atrophic cerebellum. Genetic analyses revealed the new variant c.1121T>C (V374A) in KCND3 and c.2012T>C (A671V) in KCNC3. In vitro electrophysiology experiments on Xenopus oocytes demonstrated that the V374A mutant was nonfunctional when expressed on its own. Upon equal co-expression of wild-type (WT) and V374A channel subunits, Kv4.3 currents were significantly reduced in a dominant negative manner, without alterations of the gating properties of the channel. By contrast, Kv3.3 A671V, when expressed alone, exhibited moderately reduced currents compared with WT, with no effects on channel activation or inactivation. Immunohistochemistry demonstrated adequate cell membrane translocation of the Kv4.3 V374A variant, thus suggesting an impairment of channel function, rather than of expression. Computational modeling predicted an increased Purkinje neuron firing frequency upon reduced Kv4.3 conductance.ConclusionsOur findings suggest that Kv4.3 V374A is likely pathogenic and associated with paroxysmal ataxia exacerbations, a new trait for SCA19/22. The present FDG PET findings contrast with a previous study demonstrating widespread brain hypometabolism in SCA19/22.

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Massey, Sean, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan et al. "Expanding the Allelic Heterogeneity ofANO10-Associated Autosomal Recessive Cerebellar Ataxia". Neurology Genetics 9, n. 1 (23 gennaio 2023): e200051. http://dx.doi.org/10.1212/nxg.0000000000200051.

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Abstract (sommario):

Background and ObjectivesThe term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in theANO10gene. Little is known about the molecular role of ANO10 or its role in disease. There is a wide phenotypic spectrum among patients, even among those with the same or similar genetic variants. This study aimed to characterize the molecular consequences of variants inANO10and determine their pathologic significance in patients diagnosed with SCAR10.MethodsWe presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in theANO10gene. Patients underwent either clinical whole-exome sequencing or screening of a panel of known neuromuscular disease genes. Effects on splicing were studied using reverse transcriptase PCR to analyze complementary DNA. Western blots were used to examine protein expression.ResultsOne individual who presented clinically at a much earlier age than typical was homozygous for anANO10variant (c.1864A > G [p.Met622Val]) that produces 2 transcription products by altering an exonic enhancer site. Two patients, both of Lebanese descent, had a homozygous intronic splicing variant inANO10(c.1163-9A > G) that introduced a cryptic splice site acceptor, producing 2 alternative transcription products and no detectable wild-type protein. Both these variants have not yet been associated with SCAR10. The remaining patient was found to have compound heterozygous variants inANO10previously associated with SCAR10 (c.132dupA [p.Asp45Argfs*9] and c.1537T > C [p.Cys513Arg]).DiscussionWe presented rare pathogenic variants adding to the growing list ofANO10variants associated with SCAR10. In addition, we described an individual with a much earlier age at onset than usually associated withANO10variants. This expands the phenotypic and allelic heterogeneity ofANO10-associated ARCA.

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Bouskila, Michale, Noor Esoof, Laurie Gay, Emily H. Fang, Maria Deak, Michael J. Begley, Lewis C. Cantley, Alan Prescott, Kate G. Storey e Dario R. Alessi. "TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development". Biochemical Journal 437, n. 1 (14 giugno 2011): 157–67. http://dx.doi.org/10.1042/bj20110276.

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Mutations that truncate the C-terminal non-catalytic moiety of TTBK2 (tau tubulin kinase 2) cause the inherited, autosomal dominant, SCA11 (spinocerebellar ataxia type 11) movement disorder. In the present study we first assess the substrate specificity of TTBK2 and demonstrate that it has an unusual preference for a phosphotyrosine residue at the +2 position relative to the phosphorylation site. We elaborate a peptide substrate (TTBKtide, RRKDLHDDEEDEAMSIYpA) that can be employed to quantify TTBK2 kinase activity. Through modelling and mutagenesis we identify a putative phosphate-priming groove within the TTBK2 kinase domain. We demonstrate that SCA11 truncating mutations promote TTBK2 protein expression, suppress kinase activity and lead to enhanced nuclear localization. We generate an SCA11-mutation-carrying knockin mouse and show that this leads to inhibition of endogenous TTBK2 protein kinase activity. Finally, we find that, in homozygosity, the SCA11 mutation causes embryonic lethality at embryonic day 10. These findings provide the first insights into some of the intrinsic properties of TTBK2 and reveal how SCA11-causing mutations affect protein expression, catalytic activity, localization and development. We hope that these findings will be helpful for future investigation of the regulation and function of TTBK2 and its role in SCA11.

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Zhao, Jian, Jing Zhu e William B. Thornhill. "Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface". Biochemical Journal 454, n. 2 (9 agosto 2013): 259–65. http://dx.doi.org/10.1042/bj20130034.

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The voltage-gated potassium channel Kv3.3 is the causative gene of SCA13 (spinocerebellar ataxia type 13), an autosomal dominant neurological disorder. The four dominant mutations identified to date cause Kv3.3 channels to be non-functional or have altered gating properties in Xenopus oocytes. In the present paper, we report that SCA13 mutations affect functional as well as protein expression of Kv3.3 channels in a mammalian cell line. The reduced protein level of SCA13 mutants is caused by a shorter protein half-life, and blocking the ubiquitin–proteasome pathway increases the total protein of SCA13 mutants more than wild-type. SCA13 mutated amino acids are highly conserved, and the side chains of these residues play a critical role in the stable expression of Kv3.3 proteins. In addition, we show that mutant Kv3.3 protein levels could be partially rescued by treatment with the chemical chaperone TMAO (trimethylamine N-oxide) and to a lesser extent with co-expression of Kv3.1b. Thus our results suggest that amino acid side chains of SCA13 positions affect the protein half-life and/or function of Kv3.3, and the adverse effect on protein expression cannot be fully rescued.

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Park, Won Sun, Jin Han, Nari Kim, Jae-Hong Ko, Sung Joon Kim e Yung E. Earm. "Activation of inward rectifier K+ channels by hypoxia in rabbit coronary arterial smooth muscle cells". American Journal of Physiology-Heart and Circulatory Physiology 289, n. 6 (dicembre 2005): H2461—H2467. http://dx.doi.org/10.1152/ajpheart.00331.2005.

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We examined the effects of acute hypoxia on Ba2+-sensitive inward rectifier K+ (KIR) current in rabbit coronary arterial smooth muscle cells. The amplitudes of KIR current was definitely higher in the cells from small-diameter (<100 μm) coronary arterial smooth muscle cells (SCASMC, −12.8 ± 1.3 pA/pF at −140 mV) than those in large-diameter coronary arterial smooth muscle cells (>200 μm, LCASMC, −1.5 ± 0.1 pA pF−1). Western blot analysis confirmed that Kir2.1 protein was expressed in SCASMC but not LCASMC. Hypoxia activated much more KIR currents in symmetrical 140 K+. This effect was blocked by the adenylyl cyclase inhibitor SQ-22536 (10 μM) and mimicked by forskolin (10 μM) and dibutyryl-cAMP (500 μM). The production of cAMP in SCASMC increased 5.7-fold after 6 min of hypoxia. Hypoxia-induced increase in KIR currents was abolished by the PKA inhibitors, Rp-8-(4-chlorophenylthio)-cAMPs (10 μM) and KT-5720 (1 μM). The inhibition of G protein with GDPβS (1 mM) partially reduced (∼50%) the hypoxia-induced increase in KIR currents. In Langendorff-perfused rabbit hearts, hypoxia increased coronary blood flow, an effect that was inhibited by Ba2+. In summary, hypoxia augments the KIR currents in SCASMC via cAMP- and PKA-dependent signaling cascades, which might, at least partly, explain the hypoxia-induced coronary vasodilation.

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Moro, Adriana, e Hélio Afonso Ghizoni Teive. "Cognitive impairment in Spinocerebellar ataxia type 10". Dementia & Neuropsychologia 10, n. 4 (dicembre 2016): 310–14. http://dx.doi.org/10.1590/s1980-5764-2016dn1004009.

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ABSTRACT Background: Cognitive and psychiatric dysfunction has been described in several neurodegenerative diseases but has not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10). Objective: The aim of the present study was to investigate the core cognitive features in a large cohort of Brazilian patients with SCA10, comparing the results against a healthy control group. Methods: Twenty-eight SCA10 and 28 healthy subjects were prospectively assessed regarding cognitive function and psychiatric disorders at the Movement Disorders Unit of the Federal University of Paraná between February 2012 and October 2014. Results: The SCA10 group had worse depression scores, as well as cognitive performance, when compared to healthy individuals. Conclusion: Our study showed mild cognitive and mood dysfunctions in patients with SCA10, consistent with the symptoms reported in the Cerebellar Cognitive Affective Syndrome described by Schmahmann JD in 1998. The description of these findings is an important clinical phenomenon that may guide physicians in specific disease management and improve quality of life of these patients.

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Cho, Jin Whan, Sung Yeon Kim, Sung Sup Park e Beom S. Jeon. "Spinocerebellar Ataxia Type 12 was not Found in Korean Parkinsonian Patients". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 35, n. 4 (settembre 2008): 488–90. http://dx.doi.org/10.1017/s0317167100009161.

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Background:Parkinsonism (PD) is occasionally seen in several types of spinocerebellar ataxia (SCA). Mutations in SCA gene have been reported in the patients of parkinsonism without ataxia.Methods:We examined spinocerebellar ataxia type 12 mutation in 877 PD and 199 multiple system atrophy (MSA) patients.Results and Conclusions:No patients showed abnormal SCA12 expansion. It suggests that PD and MSA are not associated with SCA12 and it is not necessary to screen SCA12 in PD and MSA patients.

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Hubert, Laurence, Magda Cannata Serio, Laure Villoing-Gaudé, Nathalie Boddaert, Anna Kaminska, Marlène Rio, Stanislas Lyonnet et al. "De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures". Journal of Medical Genetics 57, n. 2 (22 agosto 2019): 138–44. http://dx.doi.org/10.1136/jmedgenet-2018-105927.

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BackgroundAutistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed.ObjectiveThe objective of this study was to identify and characterise pathogenic variants in two individuals from unrelated families, both of whom presented a similar clinical phenotype that included an ASD, intellectual disability (ID) and seizures.MethodsWhole-exome sequencing was used to identify pathogenic variants in the two individuals. Functional studies performed in the Drosophila melanogaster model was used to assess the protein function in vivo.ResultsProbands shared a heterozygous de novo secretory carrier membrane protein (SCAMP5) variant (NM_001178111.1:c.538G>T) resulting in a p.Gly180Trp missense variant. SCAMP5 belongs to a family of tetraspanin membrane proteins found in secretory and endocytic compartments of neuronal synapses. In the fly SCAMP orthologue, the p.Gly302Trp genotype corresponds to human p.Gly180Trp. Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.ConclusionOur study identifies SCAMP5 deficiency as a cause for ASD and ID and underscores the importance of synaptic vesicular trafficking in neurodevelopmental disorders.

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Cho, Seongkyung, e Christopher S. Hayter. "Erratum to: Under pressure: A systematic review of stress and its impact among graduate students". Science and Public Policy 47, n. 6 (1 dicembre 2020): 893. http://dx.doi.org/10.1093/scipol/scab015.

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van Welie, Mara J., Wouter P. C. Boon e Bernhard Truffer. "Innovation system formation in international development cooperation: The role of intermediaries in urban sanitation". Science and Public Policy 47, n. 3 (19 febbraio 2020): 333–47. http://dx.doi.org/10.1093/scipol/scaa015.

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Abstract The transformation of urban basic service sectors towards more sustainability is one of the ‘grand challenges’ for public policy, globally. A particular urgent problem is the provision of sanitation in cities in low-income countries. The globally dominant centralised sewerage approach has proven incapable to reach many of the urban poor. Recently, an increasing number of actors in international development cooperation has started to develop alternative safely managed non-grid approaches. We approach their efforts as an emerging ‘global innovation system’ and investigate how its development can be supported by systemic intermediaries. We analyse the activities of the ‘Sustainable Sanitation Alliance’, an international network that coordinates activities in the sanitation sector and thereby supports this innovation system. The findings show how demand ing it is to fulfil an intermediary role in a global innovation system, because of the need to consider system processes at different scales, in each phase of system building.

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Knight, Melanie A., Marina L. Kennerson, Richard J. Anney, Tohru Matsuura, Garth A. Nicholson, Peyman Salimi-Tari, R. J. McKinlay Gardner, Elsdon Storey e Susan M. Forrest. "Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter:". Neurobiology of Disease 13, n. 2 (luglio 2003): 147–57. http://dx.doi.org/10.1016/s0969-9961(03)00029-9.

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Baran, Enrique J., Karolina Schwendtner e Uwe Kolitsch. "Vibrational spectra of ScAsO4·H2O". Journal of Raman Spectroscopy 37, n. 12 (2006): 1453–55. http://dx.doi.org/10.1002/jrs.1635.

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Teive, Hélio Afonso Ghizoni, Adriana Moro, Mariana Moscovich, Walter Oleskho Arruda, Renato Puppi Munhoz, Salmo Raskin, Gladys Mary Ghizoni Teive, Norberto Dallabrida e Tetsuo Ashizawa. "Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection". Arquivos de Neuro-Psiquiatria 73, n. 8 (agosto 2015): 725–27. http://dx.doi.org/10.1590/0004-282x20150086.

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Abstract (sommario):

Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.

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Teive, Hélio A. G., Walter O. Arruda, Salmo Raskin, Tetsuo Ashizawa e Lineu César Werneck. "The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene". Arquivos de Neuro-Psiquiatria 65, n. 4a (dicembre 2007): 965–68. http://dx.doi.org/10.1590/s0004-282x2007000600008.

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Abstract (sommario):

The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.

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Namikawa, Kazuhiko, Alessandro Dorigo e Reinhard W. Köster. "Neurological Disease Modelling for Spinocerebellar Ataxia Using Zebrafish". Journal of Experimental Neuroscience 13 (gennaio 2019): 117906951988051. http://dx.doi.org/10.1177/1179069519880515.

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Abstract (sommario):

The cerebellum integrates sensory information and motor actions. Increasing experimental evidence has revealed that these functions as well as the cerebellar cytoarchitecture are highly conserved in zebrafish compared with mammals. However, the potential of zebrafish for modelling human cerebellar diseases remains to be addressed. Spinocerebellar ataxias (SCAs) represent a group of genetically inherited cerebellar diseases leading to motor discoordination that is most often caused by affected cerebellar Purkinje cells (PCs). Towards modelling SCAs in zebrafish we identified a small-sized PC-specific regulatory element that was used to develop coexpression vectors with tunable expression strength. These vectors allow for in vivo imaging of SCA-affected PCs by high-resolution fluorescence imaging. Next, zebrafish with SCA type 13 (SCA13) transgene expression were established, revealing that SCA13-induced cell-autonomous PC degeneration results in eye movement deficits. Thus, SCA13 zebrafish mimic the neuropathology of an SCA-affected brain as well as the involved loss of motor control and hence provide a powerful approach to unravel SCA13-induced cell biological pathogenic and cytotoxic mechanisms.

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Mezey, Szilvia E., Josef P. Kapfhammer e Etsuko Shimobayashi. "Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development". Genes 13, n. 8 (9 agosto 2022): 1417. http://dx.doi.org/10.3390/genes13081417.

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Abstract (sommario):

The autosomal dominant inherited spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by cerebellar atrophy and loss of Purkinje neurons. Spinocerebellar ataxia type 14 (SCA14) is a rare variant of SCAs caused by missense mutations or deletions in the PRKCG gene encoding the protein kinase C γ (PKCγ). Although mutated PKCγs are responsible for SCA14, it is still unclear exactly how mutated PKCγs are involved in SCA14 pathogenesis. Therefore, it is important to study how PKCγ signaling is altered in the cerebellum, which genes or signaling pathways are affected, and how this leads to neurological disease. In this study, we used a mouse line carrying a knock-in pseudo-substrate domain mutation in PKCγ (PKCγ-A24E) as an SCA14 model and performed RNA sequencing (RNA-seq) analysis at an early developmental timepoint (postnatal day 15) to investigate changes in the gene profile compared to wildtype mice. We analyzed both heterozygous (Het) PKCγ-A24E mice and homozygous (Homo) PKCγ-A24E mice for transcriptomic changes. The Het PKCγ-A24E mice reflects the situation observed in human SCA14 patient, while Homo PKCγ-A24E mice display stronger phenotypes with respect to Purkinje cell development and behavior. Our findings highlight an abundance of modifications affecting genes involved in developmental processes, suggesting that at least a part of the final phenotype is shaped by altered cerebellar development and is not only caused by changes in mature animals.

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Van de Leemput, Joyce, Jayanth Chandran, Melanie Knight, Lynne Holtzclaw, Sonja Scholz, Mark R. Cookson, Henry Houlden et al. "Deletion at ITPR1 underlies ataxia in mice and humans (SCA15)". PLoS Genetics preprint, n. 2007 (2005): e108. http://dx.doi.org/10.1371/journal.pgen.0030108.eor.

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Baviera-Muñoz, Raquel, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller et al. "Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain". Neurology Genetics 8, n. 6 (14 novembre 2022): e200038. http://dx.doi.org/10.1212/nxg.0000000000200038.

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Background and ObjectivesTo determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain.MethodsA total of 130 unrelated patients with CA, negative for common trinucleotide repeat expansions (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, dentatorubral pallidoluysian atrophy [DRPLA], and Friedreich ataxia), were studied with CES. Bioinformatic and genotype-phenotype analyses were performed to assess the pathogenicity of the variants encountered. Copy number variants were analyzed when appropriate. In undiagnosed dominant and sporadic cases, repeat primed PCR was used to screen for the presence of a repeat expansion in theNOP56gene.ResultsCES identified pathogenic or likely pathogenic variants in 50 families (39%), including 23 novel variants. Overall, there was a high genetic heterogeneity, and the most frequent genetic diagnosis wasSPG7(n = 15), followed bySETX(n = 6),CACNA1A(n = 5),POLR3A(n = 4), andSYNE1(n = 3). In addition, 17 families displayed likely pathogenic/pathogenic variants in 14 different genes:KCND3(n = 2),KIF1C(n = 2),CYP27A1A(n = 2),AFG3L2(n = 1),ANO10(n = 1),CAPN1(n = 1),CWF19L1(n = 1),ITPR1(n = 1),KCNA1(n = 1),OPA1(n = 1),PNPLA6(n = 1),SPG11(n = 1),SPTBN2(n = 1), andTPP1(n = 1). Twenty-two novel variants were characterized. SCA36 was diagnosed in 11 families, all with autosomal dominant (AD) presentation. SCA36 screening increased the total diagnostic rate to 47% (n = 61/130). Ultimately, undiagnosed patients showed delayed age at onset (p< 0.05) and were more frequently sporadic.DiscussionOur study provides insight into the genetic landscape of CA in Eastern Spain. Although CES was an effective approach to capture genetic heterogeneity, most patients remained undiagnosed. SCA36 was found to be a relatively frequent form and, therefore, should be tested prior to CES in familial AD presentations in particular geographical regions.

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Park, Hyeyoung, Han-Joon Kim e Beom S. Jeon. "Parkinsonism in Spinocerebellar Ataxia". BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/125273.

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Abstract (sommario):

Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide. Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance. Parkinsonism in SCA17 is more remarkable in Asian populations especially in Korea. In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism. SCA3 is more common in western cohorts. SCA6 and SCA8 have also been reported with a PD-like phenotype. Herein, we reviewed the epidemiologic, clinical, genetic, and pathologic features of parkinsonism in SCAs.

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MENDES-JORGE, L., A. VALENÇA, D. RAMOS, M. LOPEZ-LUPPO, J. CATITA, VMR PIRES, V. NACHER et al. "Scara5 involvement in retinal iron metabolism". Acta Ophthalmologica 91 (agosto 2013): 0. http://dx.doi.org/10.1111/j.1755-3768.2013.2475.x.

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Gálvez-Nieto, José Luis, Ítalo Trizano-Hermosilla e Karina Polanco-Levicán. "Psychometric Evaluation of the School Climate and School Identification Measure—Student on Chilean Students: A Bifactor Model Approach". Children 11, n. 1 (11 gennaio 2024): 87. http://dx.doi.org/10.3390/children11010087.

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School climate is a relevant construct for understanding social relations at school. The SCASIM-St has been widely defined as a multidimensional construct; however, new factor structures have not been explored through evidence that allows for interpreting school climate scores from an approach that respects the multidimensionality of the scale and, at the same time, allows for identifying the degree of essential unidimensionality in the data. Consequently, the objective was to analyze the psychometric properties of the SCASIM-St from a bifactor model approach, evaluating the influence of a general school climate factor versus five specific factors. The study involved 1860 students of both sexes (42% males and 58% females), with an average age of 16.63 years (SD = 0.664), from 17 secondary schools in Chile. The results obtained by a confirmatory factor analysis provided evidence that the best model was the bifactor model for the 38 items, with one general factor and five specific factors. The Explained Common Variance (ECV) values and reliability levels by hierarchical omega accounted for a strong general school climate factor with high levels of reliability. Evidence of external criterion validity, assessed through the attitude toward authority scale (AIA-A), showed a theoretically expected and significant relationship between the factors of both instruments. This study confirmed the psychometric robustness of the SCASIM-St scale by means of a bifactor model, allowing for a new, essentially unidimensional interpretation of the scale scores and providing an instrument to measure school climate in Chile.

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Jain, Dr Rahul, Dr Pankaj Rathi, Dr Hashash Singh Ishar, Dr Kapil Telang, Dr Dinesh Chouksey e Dr Ajoy Sodani. "Spinocerebellar Ataxia 17: A clinical Rubik’s cube". American Research Journal of Clinical Case Reports 2, n. 1 (28 novembre 2020): 1–3. http://dx.doi.org/10.21694/2639-3069.20002.

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Abstract (sommario):

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.

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de Vos, C. M., J. D. Bregman e U. J. Schwarz. "Pupil Plane Interferometry: Some Conclusions from SCASIS". Symposium - International Astronomical Union 158 (1994): 419–21. http://dx.doi.org/10.1017/s0074180900108101.

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Abstract (sommario):

In this contribution we summarize some conclusions from the SCASIS project. The project, which concerns a multiple shearing pupil plane interferometer, was started in 1986 and was concluded in 1992 with the PhD thesis of de Vos.

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Dudding, T. E., K. Friend, P. W. Schofield, S. Lee, I. A. Wilkinson e R. I. Richards. "Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus". Neurology 63, n. 12 (28 dicembre 2004): 2288–92. http://dx.doi.org/10.1212/01.wnl.0000147299.80872.d1.

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Moscovich, Mariana, Renato Puppi Munhoz, Adriana Moro, Salmo Raskin, Karen McFarland, Tetsuo Ashizawa, Helio A. G. Teive e Laura Silveira-Moriyama. "Olfactory Function in SCA10". Cerebellum 18, n. 1 (19 giugno 2018): 85–90. http://dx.doi.org/10.1007/s12311-018-0954-1.

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46

Nuzhnyy, E. P., N. Yu Abramycheva, S. A. Klyushnikov e S. N. Illarioshkin. "The first family case of spinocerebellar ataxia type 14 in Russia". Neuromuscular Diseases 12, n. 3 (21 settembre 2022): 45–51. http://dx.doi.org/10.17650/2222-8721-2022-12-3-45-51.

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Spinocerebellar ataxia type 14 (SCA14) is a rare neurodegenerative disease with a predominant cerebellar affection and autosomal dominant inheritance. A characteristic clinical presentation is slowly progressive cerebellar ataxia, hyperreflexia, cognitive impairment and movement disorders (dystonia and myoclonus). Clinical and genetic characteristics of the first familial case of SCA14 in Russia (a 77‑year‑old female patient) caused by heterozygous pathogenic mutation c.155G>C (p.Cys52Ser) in exon 1 in PRKCG gene (NM_002739.1) are presented. The total duration of the disease was 47 years, and the follow‑up period was 32 years. The disease phenotype corresponded to isolated ataxia with a slow rate of progression; brain MRI revealed atrophy of the cerebellar vermis and hemispheres, symmetrical hyperintensity of the dentate nucleus on T2‑weighted images. The features of the SCA14 clinical presentation and the effect of mutations in the regulatory and kinase domains of protein kinase C gamma on the formation of pure and complex phenotypes are discussed.

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Ángel, Carlos Ariel, Carlos Alberto Rivillas, Nancy Arciniegas e Juan Manuel López. "Bases para el manejo de la gotera u ojo de gallo del cafeto en Colombia". Avances Técnicos Cenicafé 490 (1 aprile 2018): 1–8. http://dx.doi.org/10.38141/10779/0490.

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La gotera u ojo de gallo es una enfermedad de épocas húmedas o con lluvias frecuentes; sin embargo, su manejo preventivo se inicia desde la época seca o con lluvias scasas y se continua durante todo el ciclo de producción y de cosecha.

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48

Gunawardane, Kosala, Nalin Bandara, Kasun Subasinghage e Nihal Kularatna. "Extending the Input Voltage Range of Solar PV Inverters with Supercapacitor Energy Circulation". Electronics 10, n. 1 (4 gennaio 2021): 88. http://dx.doi.org/10.3390/electronics10010088.

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Cleaner and greener energy sources have proliferated on a worldwide basis, creating distributed energy systems. Given the unreliable nature of the renewable sources such as solar and wind, they are traditionally based on inverters interfaced with legacy AC grid systems. While efficiency, output waveform quality and other technical specifications of inverters keep improving gradually, only limited attention is given to widening the input range of inverters. This paper presents a new supercapacitor assisted (SCA) technique to widen the input range of an inverter without modifying the inverter itself. Developing a prototype version of a 24 V DC input capable supercapacitor-assisted wide input (SCASWI) inverter using a supercapacitor circulation front end and a commercial 12 V DC line frequency inverter is detailed in the article, explaining how the SCASWI inverter technique doubles the input voltage while maintaining the useful characteristics of the commercial inverter. The new technique has the added advantage of DC-UPS capability based on a long-life supercapacitor module.

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Santos, Laudiane Reis, Hélio Afonso Ghizoni Teive, Francisco Diego Negrão Lopes Neto, Ana Carolina Brandt de Macedo, Neliana Maria de Mello e Marise Bueno Zonta. "Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study". Arquivos de Neuro-Psiquiatria 76, n. 8 (agosto 2018): 527–33. http://dx.doi.org/10.1590/0004-282x20180077.

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ABSTRACT Spinocerebellar ataxia type 10 (SCA10) is characterized by gait ataxia, dysarthria, nystagmus, epilepsy, reduced cognitive ability and depression, which lead to functional loss and behavioral changes. These signs gradually evolve and may interfere with the physical, emotional, and social aspects of quality of life (QoL). Objective: To assess the self-perception of quality of life and its association with disease duration, severity of ataxia, balance and functional independence. Methods: This study focused on the disease duration, ataxia severity (SARA), balance (Berg Balance Scale), functionality (FIM, Lawton IADL) and QoL (SF-36 v.2) of 15 individuals with SCA10. Results: The population sample consisted of eight females and seven males, with a mean age of 43.8 (± 8.2) years, mean age of symptom onset of 33.1 (± 8.9) years and mean disease duration of 9.8 (± 11.2) years. The mean Berg Balance Scale score was 47.2 (± 12), mean SARA score (n = 14) 11.5 (± 7.3), mean Lawton IADL score 20.4 (± 1.8) and mean FIM score 120.3 (± 5.4). Individuals with SCA10 had a greater impairment of QoL in the “role-physical” domain (p = 0.04). The longer the disease duration (p = 0.02), risk of falling (p = 0.04), severity of ataxia (p = 0.00) and functional dependence in activities of daily living (p = 0.03) and instrumental activities of daily living (p = 0.00), the worse the QoL was in the “physical functioning” domain, with a decrease of 1.62 points for each year of disease duration. Conclusion: In this sample, the greatest impairment of QoL in individuals with SCA10 was observed in “physical functioning” and “physical role”.

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Salih, M., M. Hamad, M. Seidahmed, A. Binbakheet, I. Alorainy e N. Kaya. "Founder mutation in RUBCN gene in a second family confirms Salih ataxia (scar15)". Journal of the Neurological Sciences 405 (ottobre 2019): 7. http://dx.doi.org/10.1016/j.jns.2019.10.1558.

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