Literatura académica sobre el tema "Ndufv1"
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Artículos de revistas sobre el tema "Ndufv1"
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Pomohaibo, V., O. Berezan y A. Petrushov. "GENETICS OF PARANOIDPERSONALITYDISORDER". Psychology and Personality, n.º 1 (27 de enero de 2022): 198–211. http://dx.doi.org/10.33989/2226-4078.2022.1.252067.
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Paranoid personality disorder (PPD) is characterized by the following leading features: excessive sensitivity to failures and refusals; inclination to persistently endure even minor insults and injuries or slights, refusing to forgive them; suspicion and distortion of facts, interpretation of friendly or neutral actions of other people as hostile or contemptuous; unjustified suspicions of sexual infidelity of a partner; unfounded concern about the imaginary conspiracy of events both in relation to himself and around the world; feeling of one's own usually exaggerated significance; unfounded militant defense of their personal rights. The prevalence of PPD is 2.3-4.4% and is more often diagnosed in men. Heritability of PPD varies from 28% to 66%.
By now various authors have described 16 genes associated with the development of PPD: SLC6A4, COMT, CACNA1C, NOS1AP, DYNC1I1 and 11 genes of mitochondrial complex 1. The SLC6A4 gene (17q11.2) encodes a reverse serotonin transporter. A slight deletion in the promoter of this gene reduces its activity and can minimize the expression of paranoid traits. The product of the COMT gene (22q11.21) is actively involved in dopamine metabolism. A G-to-A transition atcodon 158 of this gene increases its activity by 3-4 times and, as a consequence, decreases dopamine expression in the prefrontal cortex, which causes paranoid symptoms of personality disorders. The CACNA1C gene (12p13.33) encodes a protein that plays an important role in the formation and activity of brain neurons. The single nucleotide polymorphism rs1006737, located in the 3rd intron of this gene, is associated with PPD, schizophrenia, schizotypal personality disorder, major depressive disorder and bipolar disorder.
Mitochondrial complex 1 and cellular bioenergetic pathways play a significant role in the etiology and features of PPD and schizophrenia. Significant changes in expression of 11 genes were detected in patients with PPD compared to the control sample. Expression of genes NDUFS1 (2q33.3), NDUFV1 (11q13.2), NDUFV2 (18p11.22), NDUFB5 (3q26.33), NDUFB9 (8q24.13), NDUFA13(19p13.11), NDUFA8 (9q33. 2) and NDUFA5 (7q31.32) was increased, and the genes NDUFB11 (Xp11.3), NDUFS7 (19p13.3) and NDUFS8 (11q13.2) were decreased. The NDUFS1 gene expression was particularly high. None of the sevenmitochondrial genes showed a change in expression,which may reduce the importance of a maternal patternin the heritance of PPD.The results of the study showed that the NDUFS1 gene may be a specific marker for PPD.
In the presence of relevant genetic factors certain environmental conditions can provoke the development of PPD. It is possible to predict PPD on the presence of NOS1AP (1q23.3) gene polymorphisms and childhood abuse. The protein encoded by this gene is involved in the functioning of brain synapses. There is shown that emotional violence and SNPs rs348624 and rs4145621, located respectively in the 9th exon and 3rd intron of the NOS1AP gene, reliably predict PPD.
In addition to described above 16 genes, whose variants are reliably involved in PPD, various researchers have identified at least 8 other genes that are likely to be associated with PPD, although they have been identified in the study of other mental disorders, mainly schizophrenia.
A review of available scientific sources on PPD genetics shows that research of this problem isin its beginning. It is necessary to expand and deepen these studies on the basis of the most modern molecular genetic technologies, one of which is the genome-wide associations study. This technology makes it possible not only to detect candidate genes, but also to determine the nature of mutations that cause hereditary disease. Such mutations can be single nucleotide polymorphisms, small insertions / deletions and changes in the number of copies. In addition, they can be located not only within genes (in exons and introns), but also in intergenic regions of DNA. Gene expression can be affected not only by mutations within its exons, but also by mutations within its introns and intergenic DNA regions.
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Haghighatfard, Arvin, Mitra Salehi, Seyed Mehdi Saberi y Mehrdad Hashemi. "Expression Study of NDUFS1, NDUFV1, and NDUFV2 in Schizophrenia and Paranoid Personality Disorder". Galen Medical Journal 11 (4 de diciembre de 2022): e2165. http://dx.doi.org/10.31661/gmj.v11i.2165.
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Background: Schizophrenia (SCZ) is a major psychiatric disorder with unclear etiology and biological diagnosis. Paranoid personality disorder (PPD) is a type-A personality disorder characterized by paranoia and generalized mistrust. The etiology and molecular mechanisms of SCZ and PPD are not clarified. The present study aimed to examine the expression alteration of three major genes of mitochondrial complex I in the peripheral blood of patients with SCZ and PPD, and its correlations with clinical features of patients, especially the five major personality traits. Materials and Methods: This case-control study was performed on 735 SCZ, 742 PPD, and 750 non-psychiatric individuals. The mRNAs level of NDUFS1, NDUFV1, and NDUFV2 were assessed using quantitative real-time polymerase chain reaction, and their correlations with psychiatric symptoms were assessed by the positive and negative syndrome scale and the brief psychiatric rating scale tests, as well as personality traits that were evaluated by NEO Five-Factor Inventory. Results: Findings showed significant overexpression of NDUFS1, NDUFV1, and NDUFV2 in patients with SCZ (P=0.001, P=0.002, and P=0.004, respectively) and PPD (P=0.001, P=0.003, and P=0.006, respectively) compared with non-psychiatrists. In addition, these genes were associated with positive psychiatric symptoms and neuroticism in SCZ (P=0.008) and PPD (P=0.01). Conclusion: Overexpression genes that encode subunits of complex I play an important role in SCZ and PPD etiology and severity of symptoms. It may bring evidence about the significant role of bioenergetics dysfunction in psychotic behaviors in different psychiatric situations.
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Tan, Yixuan, Yanhong Ma, Suzhi Guo y Yaoting Lin. "Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis". Medicine 103, n.º 1 (5 de enero de 2024): e36868. http://dx.doi.org/10.1097/md.0000000000036868.
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Venous thromboembolism (VTE) refers to abnormal coagulation of blood in veins, resulting in complete or incomplete occlusion of the blood vessels. Patients with liver cirrhosis are prone to blood clots. However, relationship between NDUFB2 and UQCRH and VTE is not clear. GSE19151 and GSE48000 profiles for venous thromboembolism were downloaded from gene expression omnibus (GEO) generated using GPL571 and GPL10558. Multiple datasets were merged and batched. The differentially expressed genes (DEGs) were screened and weighted gene co-expression network analysis (WGCNA) was performed. The construction and analysis of protein–protein interaction (PPI) network, functional enrichment analysis, Gene Set Enrichment Analysis (GSEA) were conducted. Gene expression heat map was drawn. Comparative toxicogenomics database (CTD) analysis were performed to find disease most related to the core genes. Western blotting (WB) experiments were further verified. TargetScan screened miRNAs that regulated central DEGs. 129 DEGs were identified. According to gene ontology (GO), DEGs were mainly enriched in mRNA metabolism, oxidative phosphorylation, nucleic acid binding and enzyme binding. The Kyoto Encyclopedia of Gene and Genome (KEGG) analysis showed that target cells were mainly enriched in ribosomes and oxidative phosphorylation. The intersection of enrichment items and GOKEGG enrichment items of DEGs is mainly enriched in oxidative phosphorylation, myocardial contraction and ribosome. In the metascape enrichment project, dna template transcription, cell stress response regulation and proton transport across the membrane can be seen in the GO enrichment project. The PPI network obtained 10 core genes (COX7C, NDUFB2, ATP5O, NDUFA4, NDUFAB1, ATP5C1, ATP5L, NDUFA7, NDUFA6, UQCRH). Gene expression heat map showed that 5 core genes (NDUFAB1, NDUFB2, UQCRH, COX7C, NDUFA4) were highly expressed in venous thromboembolism samples, and lowly expression in normal tissue samples, and 2 core genes (NDUFA7, NDUFA6) were lowly expressed in venous thromboembolism samples. CTD analysis showed that 5 genes (NDUFAB1, NDUFB2, UQCRH, COX7C, NDUFA4) were found to be associated with obesity, necrosis, inflammation and hepatomegaly. The result of WB showed that expression level of NDUFB2 and UQCR in venous thromboembolism was higher than that in control group. NDUFB2 and UQCRH are highly expressed in venous thromboembolism with liver cirrhosis, making them potential molecular targets for early diagnosis and precise treatment.
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Sheftel, Alex D., Oliver Stehling, Antonio J. Pierik, Daili J. A. Netz, Stefan Kerscher, Hans-Peter Elsässer, Ilka Wittig, Janneke Balk, Ulrich Brandt y Roland Lill. "Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I". Molecular and Cellular Biology 29, n.º 22 (14 de septiembre de 2009): 6059–73. http://dx.doi.org/10.1128/mcb.00817-09.
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ABSTRACT Respiratory complex I (NADH:ubiquinone oxidoreductase) is a large mitochondrial inner membrane enzyme consisting of 45 subunits and 8 iron-sulfur (Fe/S) clusters. While complex I dysfunction is the most common reason for mitochondrial diseases, the assembly of complex I and its Fe/S cofactors remains elusive. Here, we identify the human mitochondrial P-loop NTPase, designated huInd1, that is critically required for the assembly of complex I. huInd1 can bind an Fe/S cluster via a conserved CXXC motif in a labile fashion. Knockdown of huInd1 in HeLa cells by RNA interference technology led to strong decreases in complex I protein and activity levels, remodeling of respiratory supercomplexes, and alteration of mitochondrial morphology. In addition, huInd1 depletion resulted in massive decreases in several subunits (NDUFS1, NDUFV1, NDUFS3, and NDUFA13) of the peripheral arm of complex I, with the concomitant appearance of a 450-kDa subcomplex representing part of the membrane arm. By a novel radiolabeling technique, the amount of iron associated with complex I was also shown to reflect the dependence of this enzyme on huInd1 for assembly. Together, these data identify huInd1 as a new assembly factor for human respiratory complex I with a possible role in the delivery of one or more Fe/S clusters to complex I subunits.
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Kistol, Denis, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova et al. "Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia". International Journal of Molecular Sciences 24, n.º 2 (13 de enero de 2023): 1597. http://dx.doi.org/10.3390/ijms24021597.
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Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes MORC2, NARS2 and VPS13D, demonstrating wide genetic heterogeneity of this mitochondrial disease. The most common cause of LS in Russian patients are pathogenic variants in the SURF1 gene (44.3% of patients). The most frequent pathogenic variant is c.845_846delCT (66.0% of mutant alleles; 128/192), which is also widespread in Eastern Europe. Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation. Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFV1, NDUFS2, NDUFS8, NDUFAF5, NDUFAF6, NDUFA10, SUCLG1, GFM2, COX10, PMPCB, NARS2, PDHB and SLC19A3, including two genes previously associated with Leigh-like phenotypes—MORC2 and VPS13D. We found 49 previously undescribed nucleotide variants, including two deep intronic variants which affect splicing.
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Wen, Jake J. y Ravi S. Radhakrishnan. "41 Changes of Mitochondria-related Gene Expression Profile Associated with Burn-induced Cardiomyopathy". Journal of Burn Care & Research 41, Supplement_1 (marzo de 2020): S27—S28. http://dx.doi.org/10.1093/jbcr/iraa024.045.
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Abstract Introduction Burn-related cardiac mitochondria dysfunction (BRMD) is associated with negative health outcomes and decreased health-related quality of life; however, few studies of the molecular-genetic mechanisms of BRMD exist. Methods 60% of total body surface area (TBSA) burned rats was employed. O2K Respirometer system (Innsbruck, Austria) was utilized to measure cardiac mitochondrial function. OXPHOS complex activities were determined by using OXPHOS enzyme complex activity assays (Cayman Chemical, Ann Arbor, Michigan). The Rat Mitochondria RT2 Profiler PCR Array was used to identify differential regulation of genes involved in mitochondrial biogenesis and metabolism function. Results Burn injury induced cardiac mit dysfunction by decreasingOXPHOS oxygen consumption at State 3 energized by malate/pyruvate and succinate and declining mit ETC activity in complex I, III, IV and V. 84 rat mit-related gene profiles were measured. The mitochondrial gene profile showed that 30/84 genes related to mitochondrial function and structure were differentially expressed. Of these 30 genes, 17 (ATP12a, ATP4a, ATP6v0a2, ATP6v1e2, ATP6v1g3, COX8c, LHPP, NDUFA5, SLC25a10, SLC25a15, UCP1, UCP2, UCP3, UQCRFS1, LDHA and RGDC) were more than 2 fold up-regulated, and 13 (ATP5c1, ATP5i, ATP5L, COX17, COX6c, COX7a2, NDUFA8, NDUFB3, NDUFB7, NDUFB9, NDUFS4, NDUFS8, and UQCRB) were greater than 2-fold down-regulated. Furthermore, 8 genes (AIFM2, BCL2, FIS1, IMMP2L, MSTO1, SLC25A23, SLC25A37, SLC25A4) that had significant differentially expression were associated with heart dysfunction. Conclusions This study provides preliminary evidence that 30 mitochondrial function genes were significantly associated with burn-induced heart dysfunction in 24 hpb rats. Applicability of Research to Practice These findings elucidate possible pathways and early biomarkers for targeting novel interventions for burn-induced heart dysfunction.
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Zhang, Xiaomin, Fathima Ameer, Jasmine Crane, Gohar Azhar y Jeanne Wei. "Sirtuin-1 isoforms differentially regulate mitochondrial function". Innovation in Aging 5, Supplement_1 (1 de diciembre de 2021): 667–68. http://dx.doi.org/10.1093/geroni/igab046.2518.
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Abstract Alternative splicing generates multiple distinct isoforms that increase transcriptome and proteome diversity. Alternatively spliced isoforms may lose part of the protein domain and have different intracellular localization as well as distinct functions. The main form of the SIRT1 (SIRT1v1) protein contains 11 exons. We have identified two new isoforms, SIRT1v2 (lost 2 exons), and SIRT1v3 (lost 3 exons), but their effect on mitochondrial gene expression has not been reported. To study the effect of the three SIRT1 isoforms on mitochondrial gene expression and function, neuronal cells were transfected with SIRT1 isoforms v1, v2 or v3 plasmids, respectively. Gene expression was measured by quantitative reverse transcription PCR (RT-qPCR). Our data showed SIRT1 isoforms v1, v2 and v3 differentially regulated PCG-1alpha and PCG-1beta, which are the upstream regulators of mitochondrial structure and function. SIRT1v1 upregulated mitofusin-1 (MFN1), the mitochondrial dynamin-like GTPase (OPA1) gene, and the transcription factor A mitochondrial (TFAM) gene. In contrast, the SIRT1-v2 isoform repressed the MFN1, MFN2, and TFAM genes, while the SIRT1-v3 isoform repressed the MFN1 gene. In addition, the three SIRT1 isoforms differentially affected the mitochondrial respiratory complex I genes, including NDUFAB1, NDUFS1, NDUFV1, NDUFV2. The data indicates that SIRT1 regulates mitochondrial biogenesis and function through a signaling pathway involving PGC-1alpha, PCG-1beta, mitofusin 1 and 2, OPA1, and TFAM genes. Taken together, alternative splicing generated three SIRT1 isoform proteins with diverse functions. Age-related changes in the alternative splicing events are likely to impact sirtuin-regulated cellular functions and signaling pathways in aging and senescence.
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Zhang, Xiaomin, Pankaj Patyal, Ambika Verma, Shakshi Sharma, Gohar Azhar, Fathima Ameer, Yingni Che y Jeanne Wei. "SIRTUIN 1 ISOFORMS DIFFERENTIALLY IMPACT MITOCHONDRIAL GENE EXPRESSION AND FUNCTION IN MUSCLE CELLS". Innovation in Aging 7, Supplement_1 (1 de diciembre de 2023): 772. http://dx.doi.org/10.1093/geroni/igad104.2495.
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Abstract Background Alternative splicing (AS) is a mechanism that generates multiple mRNA transcripts and protein isoforms from a single gene, thereby increasing transcriptomic and proteomic diversity. The spliced isoforms commonly lack one or more exons, which may have similar or even opposite functions. Alternatively spliced isoforms tend to increase during aging. The sirtuin-1 gene contains multiple exons and undergoes alternative splicing, which generates multiple isoforms. In this study, we assessed the impact of three sirtuin-1 isoforms on mitochondrial gene expression and function in muscle cells. Methods Three sirtuin-1 isoforms (V1, V2, V3) were subcloned into expression vectors. Muscle cell lines (H9C2 and C2C12) were transfected with sirtuin-1 isoforms, respectively. Microscopic images were obtained using a Nikon microscope. Gene expression was determined by quantitative RT-PCR and Western blotting. The mitochondrial function was determined with a Seahorse XFe96 Analyzer. Results and conclusions The sirtuin-1 V1 isoform significantly increased the oxygen consumption rate (OCR) and decreased glycolysis (ECAR) in muscle cells, while V2 and V3 isoforms had slight or no significant effect on OCR and ECAR. V1 isoform was localized in the nucleus, whereas V2 and V3 were localized in the cytoplasm. Sirtuin-1 isoforms differentially impacted mitochondrial complex genes, including NDUFS1, NDUFV1, NDUFV2, NDUFA5. Our data indicate that the domain loss changed sirtuin-1 isoform subcellular localization, differentially impacted mitochondrial gene expression, and affected mitochondrial function. The age-related change in the expression of sirtuin-1 isoforms could affect cardiac and skeletal muscle function in aging and senescence. Further exploration of the sirtuin-1 isoforms’ functions is warranted.
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Borna, Nurun Nahar, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama y Yasushi Okazaki. "Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL". Genes 11, n.º 11 (9 de noviembre de 2020): 1325. http://dx.doi.org/10.3390/genes11111325.
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Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction. We describe a case with infantile-onset neurodegeneration, psychomotor retardation, irritability, hypotonia, and nystagmus. Brain MRI demonstrated signal abnormalities in the deep cerebral white matter, corticospinal and dorsal column tracts, and pyramids, which resemble the MRI pattern of a severe form of LBSL, and involvement of basal ganglia and thalamus that resemble the radiological features of LS. We identified biallelic loss-of-function mutations, one novel (c.756delC, p.Thr253Glnfs*44) and another reported (c.1156C > T, p.Arg386Cys), in NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1) by exome sequencing. Biochemical and functional analyses revealed lactic acidosis, complex I (CI) assembly and enzyme deficiency, and a loss of NDUFV1 protein. Complementation assays restored the NDUFV1 protein, CI assembly, and CI enzyme levels. The clinical and radiological features of this case are compatible with the phenotype of LS and LBSL associated with NDUFV1 mutations.
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Kuang, Wenlong, Jianwu Huang, Yulu Yang, Yuhua Liao, Zihua Zhou, Qian Liu y Hailang Wu. "Identification of markers correlating with mitochondrial function in myocardial infarction by bioinformatics". PLOS ONE 19, n.º 12 (30 de diciembre de 2024): e0316463. https://doi.org/10.1371/journal.pone.0316463.
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Background Myocardial infarction (MI), one of the most serious cardiovascular diseases, is also affected by altered mitochondrial metabolism and immune status, but their crosstalk is poorly understood. In this paper, we use bioinformatics to explore key targets associated with mitochondrial metabolic function in MI. Methods The datasets (GSE775, GSE183272 and GSE236374) were from National Center for Biotechnology Information (NCBI) Gene Expression Omnibus (GEO) in conjunction with mitochondrial gene data that were downloaded from the MitoCarta 3.0 database. Differentially expressed genes (DEGs) in the dataset were screened by ClusterGVis, Weighted Gene Co-Expression Network Analysis (WGCNA) and GEO2R, and functional enrichment was performed by Gene Set Enrichment Analysis (GSEA) and Kyoto Encyclopedia of Genomes (KEGG). Then mitochondria-associated DEGs (MitoDEGs) were obtained. Protein-protein interaction (PPI) networks were constructed to identify central MitoDEGs that are strongly associated with MI. The Cytoscape and miRWalk databases were then used to predict the transcription factors and target miRNAs of the central MitoDEG, respectively. Finally, the mouse model has been established to demonstrate the expression of MitoDEGs and their association with cardiac function. Results MitoDEGs in MI were mainly involved in mitochondrial function and adenosine triphosphate (ATP) synthesis pathways. The 10 MI-related hub MitoDEGs were then obtained by eight different algorithms. Immunoassays showed a significant increase in monocyte macrophage and T cell infiltration. According to animal experiments, the expression trends of the four hub MitoDEGs (Aco2, Atp5a1, Ndufs3, and Ndufv1) were verified to be consistent with the bioinformatics results. Conclusion Our study identified key genes (Aco2, Atp5a1, Ndufs3, and Ndufv1) associated with mitochondrial function in myocardial infarction.
Tesis sobre el tema "Ndufv1"
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Bounaix, Nolwenn. "Repositionnement thérapeutique de molécules pharmacologiques dans les maladies mitochondriales : impact et mécanisme d'action". Electronic Thesis or Diss., Angers, 2024. http://www.theses.fr/2024ANGE0038.
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Les maladies mitochondriales (MM) liées à un déficit du complexe I de la chaîne respiratoire représente 30% des MM. Elles peuvent être responsables de nombreuses atteintes touchant principalement les tissus consommateurs d’énergie comme cerveau, cœur et muscle. Le complexe I comporte 44 sous-unités incluant en particulier la sous-unité clé NDUFV1 qui a fait l’objet de cette étude. Le développement d’une médecine mitochondriale est également fortement compromis par l’absence de thérapies efficaces. Dans un 1er temps, un des objectifs de ce travail a été de mieux comprendre les pathologies liées à NDUFV1, avec la mise en évidence des hotspots de mutations au sein de domaines clés de cette sous unité NDUFV1. Des modèles in vitro à l’aide de différents modèles cellulaires, lignées cellulaires mutantes NDUFV1 mais également à partir de cardiomyocytes NDUFV1 différenciés à partir de cellules souches induites ont permis de caractériser la dysfonction mitochondriale de sévérité variable. Une réduction de l’activité et assemblage du complexe I, une perturbation de la dynamique mitochondriale associée à une surproduction de ROS oxydant et phénomènes inflammatoires ont pu être mis en évidence. Dans un 2e temps, il a été entrepris un criblage de molécules visant à compenser la dysfonction mitochondriale utilisant des organismes simples notamment un modèle champignon Podospora Anserina portant une mutation pour le gène nuo-51A357V homologue de NDUFV1. Ce travail a permis de sélectionner 2 médicaments candidats Alvérine et Ebselen. L’exposition des modèles cellulaires NDUFV1 ou cardiomyocytes mutants a confirmé l’efficacité de ces molécules. Ces molécules ont permis une restauration des principaux paramètres mitochondriaux, incluant respiration mitochondriale, réduction de la production de ROS mais aussi des marqueurs de l’inflammation, mécanismes clefs de la maladie. La poursuite de cette étude avec un nouveau modèle murin NDUFV1 pourrait confirmer l’efficacité de ces molécules et la mise en place d’essais cliniques pour ces MMMitochondrial diseases (MD) related to a deficiency in complex I of the respiratory chain represent 30% of all MDs. They can lead to various impairments primarily affecting energy-demanding tissues such as the brain, heart, and muscle. Complex I consists of 44 subunits, notably including the key subunit NDUFV1, which is the focus of this study. The development of mitochondrial medicine is significantly compromised by the absence of effective therapies. Initially, one of the objectives of this work was to gain a better understanding of the pathologies associated with NDUFV1 by identifying mutation hotspots within key domains of this NDUFV1 subunit. In vitro models utilizing various cellular systems, mutant NDUFV1 cell lines, and NDUFV1 cardiomyocytes differentiated from induced pluripotent stem cells were employed to characterize the variable severity of mitochondrial dysfunction. A reduction in complex I activity and assembly, disturbances in mitochondrial dynamics, associated with overproduction of oxidative ROS and inflammatory phenomena, were demonstrated. Subsequently, a screening of compounds aimed at compensating for mitochondrial dysfunction was conducted using simple organisms, notably a fungal model, Podospora anserina, carrying a mutation in the nuo-51A357V gene homologous to NDUFV1. This work led to the selection of two candidate drugs, Alverine and Ebselen. Exposure of NDUFV1 cell models or mutant cardiomyocytes confirmed the efficacy of these compounds. These molecules restored key mitochondrial parameters, including mitochondrial respiration, reduced ROS production, and inflammatory markers—key mechanisms in the disease. The continuation of this study with a new NDUFV1 mouse model could confirm the efficacy of these compounds and facilitate the establishment of clinical trials for these MDs
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Wohlgemuth, Eva-Maria [Verfasser]. "Funktionelle Charakterisierung neu identifizierter NDUFB3-Mutationen / Eva-Maria Wohlgemuth". Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2021. http://d-nb.info/1234982722/34.
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Lescuyer, Pierre. "Étude de l'expression des gènes nucléaires codant pour les sous-unités du complexe I mitochondrial humain". Phd thesis, Université Joseph Fourier (Grenoble), 2002. http://tel.archives-ouvertes.fr/tel-00175098.
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La NADH:ubiquinone oxydoréductase (complexe I) est le plus gros complexe enzymatique du système mitochondrial d'oxydation phosphorylante (43 sous-unités chez l'homme). Très peu de données sont disponibles concernant les mécanismes régulant l'expression de ces protéines. Cette étude a été initiée par l'étude des promoteurs de deux gènes du complexe I mitochondrial humain. Les résultats montrent que le gène NDUFS8 qui code pour la sous-unité 23 kDa (TYKY) est transcrit sous le contrôle des facteurs de transcription YY1 et Sp1 tandis que gène NDUFS7 codant pour la sous-unité 20 kDa (PSST) est régulé par NRF-1 et Sp1.
Dans la deuxième partie de ce travail, une méthode d'analyse du protéome mitochondrial humain par électrophorèse bidimensionnelle a été développée. Le but est d'aborder de manière globale et sans a priori l'expression des protéines du complexe I : déterminer qui est régulé et comment en réponse à un stimulus déterminé?
Des cartes de référence ont été développées à partir de mitochondries extraites de placenta humain en utilisant deux types de gradient de pH : l'un est adapté aux protéines acides et neutres, l'autre aux protéines basiques. Sur ces cartes, 85 protéines mitochondriales ont été identifiées par spectrométrie de masse dont 17 sous-unités du complexe I. Cette technique d'analyse protéomique a ensuite été utilisée pour étudier la régulation de l'expression des protéines mitochondriales par le fer. Sur le plan technique, les premiers résultats sont encourageants : les gels d'électrophorèse bidimensionnelle préparés avec des mitochondries extraites de cellules en culture sont de bonne qualité et des variations reproductibles de l'expression de sous-unités du complexe I et d'autres protéines mitochondriales ont pu être détectées. Sur le plan fondamental, les données obtenues sont préliminaires. Il sera nécessaire de réaliser de nouvelles expériences pour confirmer les premières observations et analyser la cinétique des variations détectées.
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Bris, Céline. "Influence de la génétique mitochondriale en pathologie : apport des techniques de séquençage haut débit Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia". Thesis, Angers, 2017. http://www.theses.fr/2017ANGE0093.
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Les maladies mitochondriales sont des pathologies fréquentes du métabolisme caractérisées par une forte hétérogénéité clinique et génétique, notamment par la dépendance à 2 génomes, nucléaire (ADNn) et mitochondrial (ADNmt), et le concept d’hétéroplasmie (HT). L’objectif de ce travail de thèse a été de développer une stratégie d’analyse de l’ADNmt par séquençage haut-débit (NGS), puis de l’appliquer à l’étude des maladies mitochondriales et des pathologies liées au vieillissement : glaucome à angle ouvert (GPAO) et vieillissement ovarien précoce. Après validation des performances de notre stratégie NGS pour la détection et la quantification des variations de l’ADNmt, nous avons confirmé l’intérêt de l’analyse systématique de la totalité de l’ADNmt avec l’identification de nouveaux variants et l’utilisation de cellules uroépithéliales pour le diagnostic des maladies mitochondriales. Cependant, ces progrès génèrent de nouveaux défis dont l’interprétation des faibles HT et la priorisation des variants de signification inconnue. Pour les pathologies liées au vieillissement, nous avons mis en évidence le possible rôle protecteur des haplogroupes T et H chez les femmes, respectivement dans la survenue et la sévérité du GPAO, suggérant une modulation de l’influence de l’ADNmt par le genre et donc l’importance de la stratification par sexe dans les études d’association. En revanche, nous n’observons pas d’accumulation d’anomalies de l’ADNmt dans le vieillissement ovarien précoce. En perspective, nous rapportons l’identification d’une mutation de l’ADNn dans un phénotype atypique, rappelant la complexité de l’étude des pathologies mitochondriales, du fait de ce double génomeMitochondrial diseases are common metabolic disorders characterized by strong clinical and genetic heterogeneity, in particular due to the dependence on 2 genomes, nuclear (nDNA) and mitochondrial DNA (mtDNA), and the concept of mitochondrial heteroplasmy. The purpose of this work was to develop a strategy for the analysis of the mtDNA through next-generation sequencing (NGS), and then to apply it to the study of mitochondrial diseases and those related to aging: primary open-angle glaucoma (POAG) and ovarian aging. After validating the performances of our NGS strategy for the detection and quantification of mtDNA variations, we confirmed the power of systematic analysis of the whole mitochondrial genome with the use of uroepithelial cells for mitochondrial diseases diagnosis and the identification of novel mtDNA variants. However, these advances generate new challenges such as the interpretation of low percentages of mtDNA mutations or the prediction of the pathogenicity of new variants. For aging-related diseases, we have identified the possible protective role of the mitochondrial haplogroups T and H in women, respectively in the occurrence and severity of POAG, suggesting that mtDNA influence is drivenby gender, and thus the importance of gender stratification for association studies. By contrast, we did not observe any accumulation of mtDNA abnormalities in early ovarian aging. In perspective, we report the identification of a nDNA mutation in an atypical phenotype, highlighting the complexity of mitochondrial diseases diagnosis, due to this double genome
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Chi, Tsung-Chen y 紀宗辰. "Functional study of NADH dehydrogenase (ubiquinone) flavoprotein 1 (NDUFV1) and its role in the assembly of respiratory complexes". Thesis, 2014. http://ndltd.ncl.edu.tw/handle/2824j7.
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碩士國立清華大學
分子醫學研究所
102
NADH dehydrogenase (ubiquinone) flavoprotein 1 (NDUFV1) is a nuclear-encoded subunit of mitochondrial Complex I. It provides a conserved FMN binding site and is responsible for transferring electrons from NADH to FMN to facilitate the entrance of electrons into the electron transport chain (ETC). NDUFV1 also has an iron sulfur cluster [4Fe-4S] (N3) that is the first of that kind in the Complex I. The defect in NDUFV1 could cause neural disease like psychomotor retardation, and some point mutations on FMN binding site have been found in patients with Leigh syndrome. The assembly of intact OXPHOS complexes (complex I~V) is very important in mitochondrial energy production. In addition, the assembly of several respiratory complexes to form a larger supercomplex may improve the efficiency of electron transport. The supercomplex composed by complex I, complex III and complex IV has been confirmed and the defect in supercomplex assembly is associated with encephalomyopathies and neurodegenerative disorders. In present study, we applied a RNA interference system to suppress the NDUFV1 expression in human embryonic kidney cell line (HEK293), and generated three knockdown cell lines A9, B5 and E12 with 55~70% reduction in NDUFV1 protein level. We also performed oxygen consumption assay, dynamic complex I activity assay, ATP determination assay and cell growth rate measurement to evaluate the effects of NDUFV1 suppression. The results showed that the metabolic activity and growth rate were significantly decreased in NDUFV1 knockdown cell lines. In the respiratory complex assembly study, we solubilized mitochondria and applied a high resolution clear native electrophoresis (HrCNE) approach to investigate whether NDUFV1 knockdown affects individual respiratory complex assembly. The results III indicated that NDUFV1 knockdown would significantly decrease the level of complex I, III and IV. Further investigation of OXPHOS supercomplex formation also showed that while NDUFV1 was suppressed, CI/CIII2/CIVn supercomplexes were significantly reduced in cells. These finding suggests that NDUFV1 might play an important role in the assembly/stability of mitochondrial OXPHOS complexes and supercomplexes.
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施德玉. "The research on Ban Chiang Ti and Chu Pai Ti". Thesis, 2005. http://ndltd.ncl.edu.tw/handle/ndufdh.
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Liu, Hsin-Yu y 劉欣瑜. "The functional and mitochondrial targeting signal studies of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) subunit in mitochondrial complexⅠ". Thesis, 2009. http://ndltd.ncl.edu.tw/handle/03608895926813533123.
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碩士國立清華大學
分子醫學研究所
97
Mammalian NADH-ubiquinone oxidoreductase (complex I) is the first, largest and most complicated respiratory complex in mitochondria. Seven subunits of complex I, including ND1-6 and ND4L, are encoded by mitochondrial DNA (mtDNA), and the other thirty-eight subunits are encoded by nuclear DNA (nDNA). NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) is one of the core nucleus-encoded subunits existing in human mitochondrial complex I. It contains one iron sulfur cluster ([2Fe-2S] binuclear cluster N1a), which may play a role in the prevention of oxidative damage. The defect of NDUFV2 subunit is associated with neurodegenerative diseases, including Parkinson disease, Alzheimer’s disease, Bipolar disorder and Schizophrenia. In this study, we applied the RNA interference (RNAi) technology in human T-REx293 cells to investigate the function of NDUFV2 subunit. We found that suppression of NDUFV2 expression in the cells would cause a slowing growth cell rate in galactose medium, decreasing oxygen consumption rate, reducing mitochondrial membrane potential (MMP) and increasing reactive oxygen species (ROS) generation, but did not affect complex I assembly. These observations provided the evidences that NDUFV2 plays an essential role for energy production in cells. In addition, we designed various truncation constructs to investigate the mitochondrial targeting mechanism of NDUFV2. We identified that the cleavage site of NDUFV2 was located around amino acid residue 32 and the first 22 residues of NDUFV2 was enough to function as a mitochondrial targeting sequence (MTS) to carry the passenger protein, enhanced green fluorescent protein (EGFP), into mitochondria successfully. Furthermore, we used the site-directed mutagenesis to study the basic, hydrophobic and hydroxylated residues in this identified N-terminal MTS. We found that the basic and hydrophobic residues were important for the MTS of NDUFV2, but the hydroxylated residues were not. In a recent study, the patients of the hypertrophic cardiomyopathy and encephalomyopathy were found to contain 4 bp deletion in the second intron of NDUFV2 (IVS2+5_+8delGTAA) to cause the exon 2 losing. To dissect the pathogenetic mechanism caused by this mutation, we established the human disease model and found that lost of this exon 2 cause NDUFV2 to lose its mitochondrial targeting ability. In this report, we proved that the NDUFV2 plays an important role for energy production in mammalian cells and identified the location of mitochondrial targeting sequence in this protein.
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Chang, Fu-Ming y 張富茗. "The functional study of NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NDUFS7) subunit". Thesis, 2013. http://ndltd.ncl.edu.tw/handle/42951432985652303444.
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碩士國立清華大學
分子醫學研究所
101
NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NDUFS7) is one of the nuclear-encoded and highly conserved core subunits of mitochondrial complex I. This protein houses the tetranuclear iron-sulfur cluster N2, which is the terminal receptor of electrons and the reducer for quinone in complex I peripheral arm. NDUFS7 protein plays a critical role in complex I assembly and activity, according to the results of studies from simple organisms and human disease models. Mutations of NDUFS7 have been associated with Leigh Syndrome and bipolar disorder. To detailedly investigate the role of NDUFS7 in mitochondrial complex I of human cells, NDUFS7 was suppressed in human T-REx293 cells by RNA interference system in this study. In the NDUFS7 knockdown cells, the growth rate, ATP generation, oxygen consumption and complex I activity were reduced. These results provided the evidence of the essential role of NDUFS7 for complex I activity and energy production in human cells.
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Yang, Jia shin y 楊佳欣. "Phosphorylation of Human NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NDUFS7) by c-Src". Thesis, 2015. http://ndltd.ncl.edu.tw/handle/35833250274081088716.
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碩士國立清華大學
分子醫學研究所
103
Human NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NDUFS7), participating in the process of oxidative phosphorylation (OXPHOS), is one of the most conserved core subunits of mitochondrial complex I. In addition to containing a mitochondrial targeting sequence (MTS), a functional nuclear localization signal (NLS) and a nuclear export signal (NES) are both demonstrated to be present in NDUFS7. Deficiency of NDUFS7 is associated with Leigh syndrome (LS) and patients suffering from this disease develop movement disorders and other serious complications. Thus, clearing out the controlling mechanism of NDUFS7 subcellular distribution and its functions at the molecular level is important. Previous studies conducted in our laboratory indicated that NDUFS7 could be located in mitochondria, the cytosol and the nucleus. However, the mechanism of regulating its localization is still unknown. Post–translational modifications are well recognized as the candidates for controlling protein localization and functions. The main purpose of this project is to study the influence of phosphorylation on the subcellular localization of NDUFS7 and/or its involvement in the regulation of NDUFS7 functions. The current results showed that the precursor form of NDUFS7 is phosphorylated at tyrosine residues and enhanced by ATP treatment. In addition, the tyrosine phosphorylation of NDUFS7 could be enhanced by c-Src kinase both in vivo and in vitro. However, the subcellular localization of NDUFS7 is not significantly affected by the expression of c-Src as compared to that of the control groups. Moreover, one of the sites involved in the phosphorylation of NDUFS7 is identified to be tyrosine-160, and the stability of NDUFS7 protein is positively regulated by phosphorylation at this residue. Further studies are on the way to explore the effect of NDUFS7 phosphorylation on mitochondrial functions.
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Wu, Jian Shian y 吳建賢. "Sumoylation of Human NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NDUFS7) by SUMO-1". Thesis, 2013. http://ndltd.ncl.edu.tw/handle/10504655345694324867.
Texto completoResumen
碩士國立清華大學
分子醫學研究所
101
Human NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NDUFS7) is one of the most conserved core subunits of mitochondrial complex I. NDUFS7 has a bound iron-sulfur cluster N2 (tetranuclear) which is the terminal redox center in the electron transport chain (ETC) of complex I. NDUFS7 protein is encoded by the nuclear genome and is incorporated in the peripheral segment of complex I. Most mitochondrial matrix proteins are synthesized in the cytosol and imported into mitochondria by mitochondrial targeting sequences (MTSs). We previously defined the N terminus of the first 60 amino acids of NDUFS7 is an effective MTS. We also identified that there is a nuclear localization signal (NLS) and a nuclear export signal (NES) located in the C-terminus of NDUFS7. Sumoylation has been recognized to play an important role in protein nucleocytoplasmic transportation. Small ubiquitin-related modifiers (SUMOs) could be conjugated to target proteins by E1 (SAE1/SAE2), E2 (UBC9) and E3 enzymes after translation. Using sequence predication software, NDUFS7 protein was found to have several potential sumoylation sites. In this study, we co-transfected plasmids expressed NDUFS7, SUMO-1 and UBC9 into HEK293 cells, and detected the conjugation of NDUFS7 with SUMO-1 by western blotting with different antibodies. The results indicated that NDUFS7 could indeed be sumoylated at the current experimental conditions in vivo. To confirm these findings, SUMO-specific protease (SENP) was co-expressed with NDUFS7, SUMO-1 and UBC9 proteins in some experiments. The results showed that overexpression of SENP could reduce the level of NDUFS7 and SUMO-1 interaction. These results suggested that NDUFS7 can be sumoylated by SUMO-1 in cells. In addition, we also identified one of the sumoylation sites of NDUFS7 to be Lys 202, which is consistent with the consensus sumoylation motif and is required for NDUFS7 protein stability. Further studies are needed and on the way to investigate the functional detail of NDUFS7 sumoylation.
Libros sobre el tema "Ndufv1"
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(Nigeria), Ebonyi State. Government white paper on the report of the Judicial Panel of Inquiry into the Ndufu/Ndiegu Amagu Crisis/Land Dispute in Ikwo South Local Government Area. Abakaliki, Nigeria]: Ebonyi State of Nigeria, 2006.
Buscar texto completoCapítulos de libros sobre el tema "Ndufv1"
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Marina, Adela Della, Ulrike Schara, Angela Pyle, Claudia Möller-Hartmann, Elke Holinski-Feder, Angela Abicht, Birgit Czermin et al. "NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome". En JIMD Reports, 17–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/8904_2012_195.
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Grillo, Anthony S., Alessandro Bitto y Matt Kaeberlein. "The NDUFS4 Knockout Mouse: A Dual Threat Model of Childhood Mitochondrial Disease and Normative Aging". En Methods in Molecular Biology, 143–55. New York, NY: Springer US, 2021. http://dx.doi.org/10.1007/978-1-0716-1270-5_10.
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Minoia, Francesca, Marta Bertamino, Paolo Picco, Mariasavina Severino, Andrea Rossi, Chiara Fiorillo, Carlo Minetti, Claudia Nesti, Filippo Maria Santorelli y Maja Di Rocco. "Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation". En JIMD Reports, 37–43. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_9.
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"NDUFV (NADH-ubiquinone-oxidoreductase flavoprotein)". En Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1325. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_11212.
Texto completoActas de conferencias sobre el tema "Ndufv1"
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Kaiyrzhanov, Rauan. "Mitochondrial Complex I Deficiency Associated with Biallelic NDUFA13 Variants Lead to Leigh Syndrome (P11-9.008)". En 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202302.
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Liu, Lili, Lei Qi, Teresa Knifley, Dava W. Piecoro, Piotr Rychahou, Jinpeng Liu, Mihail I. Mitov et al. "Abstract 1119: S100A4 alters mitochondrial metabolism to promote invasion and metastasis of non-small cell lung cancer cells through upregulation of NDUFS2". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1119.
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Liu, Lili, Lei Qi, Teresa Knifley, Dava W. Piecoro, Piotr Rychahou, Jinpeng Liu, Mihail I. Mitov et al. "Abstract 1119: S100A4 alters mitochondrial metabolism to promote invasion and metastasis of non-small cell lung cancer cells through upregulation of NDUFS2". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1119.
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Ivanchev, Ivan y Veselin Slavchev. "Probable compressive strength and modulus of elasticity of concrete, determined by Non Destructive Ultrasonic Pulse Velocity Method (NDUPVM) in different ways of measuring transducers placement". En 2019 XXIX International Scientific Symposium "Metrology and Metrology Assurance" (MMA). IEEE, 2019. http://dx.doi.org/10.1109/mma.2019.8936002.
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Zhang, Kai, Yujun Zhang, Ying He, Kun You, Yanwei Gao, Chen Chen, Guohua Liu, Chungui He, Yibing Lu y Wenqing Liu. "Design of the NDUV detection circuit for the NO concentration of the vehicle exhaust emissions". En International Symposium on Optoelectronic Technology and Application 2016. SPIE, 2016. http://dx.doi.org/10.1117/12.2244559.
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Knocker, Louisa y Zheng Rong Yang. "SLC- and NDUF-genes expression dynamics in pre-implantation embryonic development between bovine and mouse — A bioinformatics study". En 2014 7th International Conference on Biomedical Engineering and Informatics (BMEI). IEEE, 2014. http://dx.doi.org/10.1109/bmei.2014.7002857.
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