Articoli di riviste sul tema "C9ORF72 complex"
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Tang, Dan, Jingwen Sheng, Liangting Xu, Xiechao Zhan, Jiaming Liu, Hui Jiang, Xiaoling Shu et al. "Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a". Proceedings of the National Academy of Sciences 117, n. 18 (17 aprile 2020): 9876–83. http://dx.doi.org/10.1073/pnas.2002110117.
Nörpel, Julia, Simone Cavadini, Andreas D. Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A. Chao e Varun Bhaskar. "Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture". PLOS Biology 19, n. 7 (23 luglio 2021): e3001344. http://dx.doi.org/10.1371/journal.pbio.3001344.
Yang, Mei, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar e Jian-Fu Chen. "A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy". Science Advances 2, n. 9 (settembre 2016): e1601167. http://dx.doi.org/10.1126/sciadv.1601167.
Amick, Joseph, Arun Kumar Tharkeshwar, Catherine Amaya, e Shawn M. Ferguson. "WDR41 supports lysosomal response to changes in amino acid availability". Molecular Biology of the Cell 29, n. 18 (settembre 2018): 2213–27. http://dx.doi.org/10.1091/mbc.e17-12-0703.
Amick, Joseph, Agnes Roczniak-Ferguson e Shawn M. Ferguson. "C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling". Molecular Biology of the Cell 27, n. 20 (15 ottobre 2016): 3040–51. http://dx.doi.org/10.1091/mbc.e16-01-0003.
Chandra, Sunandini, e C. Patrick Lusk. "Emerging Connections between Nuclear Pore Complex Homeostasis and ALS". International Journal of Molecular Sciences 23, n. 3 (25 gennaio 2022): 1329. http://dx.doi.org/10.3390/ijms23031329.
Alvarez-Mora, Maria Isabel, Gloria Garrabou, Tamara Barcos, Francisco Garcia-Garcia, Ruben Grillo-Risco, Emma Peruga, Laura Gort et al. "Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients". Antioxidants 11, n. 6 (8 giugno 2022): 1129. http://dx.doi.org/10.3390/antiox11061129.
McAlpine, William, Lei Sun, Kuan-wen Wang, Aijie Liu, Ruchi Jain, Miguel San Miguel, Jianhui Wang et al. "Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function". Proceedings of the National Academy of Sciences 115, n. 49 (15 novembre 2018): E11523—E11531. http://dx.doi.org/10.1073/pnas.1814753115.
Liang, Chen, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen e Jian-Fu Chen. "Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models". Human Molecular Genetics 28, n. 23 (18 ottobre 2019): 3940–53. http://dx.doi.org/10.1093/hmg/ddz230.
Talaia, Gabriel, Joseph Amick e Shawn M. Ferguson. "Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids". Proceedings of the National Academy of Sciences 118, n. 8 (17 febbraio 2021): e2014941118. http://dx.doi.org/10.1073/pnas.2014941118.
Wang, Tao, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na e Jiou Wang. "C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly". Cell Metabolism 33, n. 3 (marzo 2021): 531–46. http://dx.doi.org/10.1016/j.cmet.2021.01.005.
Tang, Dan, Jingwen Sheng, Liangting Xu, Chuangye Yan e Shiqian Qi. "The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases". Autophagy 16, n. 8 (17 giugno 2020): 1542–43. http://dx.doi.org/10.1080/15548627.2020.1779473.
Coyne, Alyssa N., Victoria Baskerville, Benjamin L. Zaepfel, Dennis W. Dickson, Frank Rigo, Frank Bennett, C. Patrick Lusk e Jeffrey D. Rothstein. "Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS". Science Translational Medicine 13, n. 604 (28 luglio 2021): eabe1923. http://dx.doi.org/10.1126/scitranslmed.abe1923.
Fukatsu, Shoya, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto e Junji Yamauchi. "Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1". Pathophysiology 31, n. 1 (9 febbraio 2024): 100–116. http://dx.doi.org/10.3390/pathophysiology31010008.
Dombroski, Beth A., Douglas R. Galasko, Ignacio F. Mata, Cyrus P. Zabetian, Ulla-Katrina Craig, Ralph M. Garruto, Kiyomitsu Oyanagi e Gerard D. Schellenberg. "C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex". JAMA Neurology 70, n. 6 (1 giugno 2013): 742. http://dx.doi.org/10.1001/jamaneurol.2013.1817.
Cook, Casey N., Yanwei Wu, Hana M. Odeh, Tania F. Gendron, Karen Jansen-West, Giulia del Rosso, Mei Yue et al. "C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy". Science Translational Medicine 12, n. 559 (2 settembre 2020): eabb3774. http://dx.doi.org/10.1126/scitranslmed.abb3774.
Su, Ming-Yuan, Simon A. Fromm, Roberto Zoncu e James H. Hurley. "Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD". Nature 585, n. 7824 (26 agosto 2020): 251–55. http://dx.doi.org/10.1038/s41586-020-2633-x.
Hodges, John. "Frontotemporal dementia and autism spectrum disorder: complex bedfellows". Journal of Neurology, Neurosurgery & Psychiatry 94, n. 12 (15 novembre 2023): e2.39. http://dx.doi.org/10.1136/jnnp-2023-bnpa.8.
Costa, Beatrice, Claudia Manzoni, Manuel Bernal-Quiros, Demis A. Kia, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez et al. "C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts". Neurology 95, n. 24 (17 settembre 2020): e3288-e3302. http://dx.doi.org/10.1212/wnl.0000000000010914.
Goodman, Lindsey D., Mercedes Prudencio, Nicholas J. Kramer, Luis F. Martinez-Ramirez, Ananth R. Srinivasan, Matthews Lan, Michael J. Parisi et al. "Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD". Nature Neuroscience 22, n. 6 (20 maggio 2019): 863–74. http://dx.doi.org/10.1038/s41593-019-0396-1.
Lee, Jongbo, Jumin Park, Ji-hyung Kim, Giwook Lee, Tae-Eun Park, Ki-Jun Yoon, Yoon Ki Kim e Chunghun Lim. "LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient". PLOS Biology 18, n. 12 (23 dicembre 2020): e3001002. http://dx.doi.org/10.1371/journal.pbio.3001002.
Webster, Christopher P., Emma F. Smith, Claudia S. Bauer, Annekathrin Moller, Guillaume M. Hautbergue, Laura Ferraiuolo, Monika A. Myszczynska et al. "The C9orf72 protein interacts with Rab1a and the ULK 1 complex to regulate initiation of autophagy". EMBO Journal 35, n. 15 (22 giugno 2016): 1656–76. http://dx.doi.org/10.15252/embj.201694401.
Siuda, Joanna, Tatiana Lewicka, Malgorzata Bujak, Grzegorz Opala, Aleksandra Golenia, Agnieszka Slowik, Marka van Blitterswijk et al. "ALS-FTD Complex Disorder due to C9ORF72 Gene Mutation: Description of First Polish Family". European Neurology 72, n. 1-2 (2014): 64–71. http://dx.doi.org/10.1159/000362267.
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.
Takada, Leonel T. "The Genetics of Monogenic Frontotemporal Dementia". Dementia & Neuropsychologia 9, n. 3 (settembre 2015): 219–29. http://dx.doi.org/10.1590/1980-57642015dn93000003.
Shi, Kevin Y., Eiichiro Mori, Zehra F. Nizami, Yi Lin, Masato Kato, Siheng Xiang, Leeju C. Wu et al. "Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export". Proceedings of the National Academy of Sciences 114, n. 7 (9 gennaio 2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.
Wong, Ching-On, e Kartik Venkatachalam. "Motor neurons from ALS patients with mutations in C9ORF72 and SOD1 exhibit distinct transcriptional landscapes". Human Molecular Genetics 28, n. 16 (20 maggio 2019): 2799–810. http://dx.doi.org/10.1093/hmg/ddz104.
Morello, Giovanna, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti e Sebastiano Cavallaro. "Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family". Journal of Personalized Medicine 10, n. 4 (2 dicembre 2020): 262. http://dx.doi.org/10.3390/jpm10040262.
de Boer, Eva Maria Johanna, Viyanti K. Orie, Timothy Williams, Mark R. Baker, Hugo M. De Oliveira, Tuomo Polvikoski, Matthew Silsby et al. "TDP-43 proteinopathies: a new wave of neurodegenerative diseases". Journal of Neurology, Neurosurgery & Psychiatry 92, n. 1 (11 novembre 2020): 86–95. http://dx.doi.org/10.1136/jnnp-2020-322983.
Ortiz, Genaro Gabriel, Javier Ramírez-Jirano, Raul L. Arizaga, Daniela L. C. Delgado-Lara e Erandis D. Torres-Sánchez. "Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach". Brain Sciences 13, n. 10 (18 ottobre 2023): 1474. http://dx.doi.org/10.3390/brainsci13101474.
Fletcher, Phillip, Jonathan Schott, Martin Rossor e Jason Warren. "ABNORMAL SOUND AND MUSIC REWARD PROCESSING IN DEMENTIA: A BEHAVIOURAL AND NEUROANATOMICAL ANALYSIS". Journal of Neurology, Neurosurgery & Psychiatry 86, n. 11 (14 ottobre 2015): e4.136-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.46.
Massano, João, Miguel Leão, Carolina Garrett e On behalf of Grupo de Neurogenética do Centro Hospitalar São João. "Investigação de Etiologia Genética nas Demências Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João". Acta Médica Portuguesa 29, n. 10 (31 ottobre 2016): 675. http://dx.doi.org/10.20344/amp.7583.
Wallace, Amelia D., Thomas A. Sasani, Jordan Swanier, Brooke L. Gates, Jeff Greenland, Brent S. Pedersen, Katherine E. Varley e Aaron R. Quinlan. "CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing". PLOS ONE 16, n. 4 (8 aprile 2021): e0241253. http://dx.doi.org/10.1371/journal.pone.0241253.
Leray, Xavier, Rossella Conti, Yan Li, Cécile Debacker, Florence Castelli, François Fenaille, Anselm A. Zdebik, Michael Pusch e Bruno Gasnier. "Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism". Proceedings of the National Academy of Sciences 118, n. 32 (3 agosto 2021): e2025315118. http://dx.doi.org/10.1073/pnas.2025315118.
Božič, Tim, Matja Zalar, Boris Rogelj, Janez Plavec e Primož Šket. "Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD". Molecules 25, n. 3 (25 gennaio 2020): 525. http://dx.doi.org/10.3390/molecules25030525.
Amador, Maria-Del-Mar, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine et al. "Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS". Neurology Genetics 5, n. 6 (13 novembre 2019): e374. http://dx.doi.org/10.1212/nxg.0000000000000374.
Kim, Hyerim, Junghwa Lim, Han Bao, Bin Jiao, Se Min Canon, Michael P. Epstein, Keqin Xu et al. "Rare variants in MYH15 modify amyotrophic lateral sclerosis risk". Human Molecular Genetics 28, n. 14 (1 aprile 2019): 2309–18. http://dx.doi.org/10.1093/hmg/ddz063.
Iyer, Shalini, Vasanta Subramanian e K. Ravi Acharya. "C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor". PeerJ 6 (17 ottobre 2018): e5815. http://dx.doi.org/10.7717/peerj.5815.
Shehjar, Faheem, Daniyah A. Almarghalani, Reetika Mahajan, Syed A. M. Hasan e Zahoor A. Shah. "The Multifaceted Role of Cofilin in Neurodegeneration and Stroke: Insights into Pathogenesis and Targeting as a Therapy". Cells 13, n. 2 (18 gennaio 2024): 188. http://dx.doi.org/10.3390/cells13020188.
Mandrioli, Jessica, Valeria Crippa, Cristina Cereda, Valentina Bonetto, Elisabetta Zucchi, Annalisa Gessani, Mauro Ceroni et al. "Proteostasis and ALS: protocol for a phase II, randomised, double-blind, placebo-controlled, multicentre clinical trial for colchicine in ALS (Co-ALS)". BMJ Open 9, n. 5 (maggio 2019): e028486. http://dx.doi.org/10.1136/bmjopen-2018-028486.
Tang, Dan, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li et al. "ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis". Proceedings of the National Academy of Sciences 120, n. 50 (8 dicembre 2023). http://dx.doi.org/10.1073/pnas.2220496120.
Amick, Joseph, Arun Kumar Tharkeshwar, Gabriel Talaia e Shawn M. Ferguson. "PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation". Journal of Cell Biology 219, n. 1 (18 dicembre 2019). http://dx.doi.org/10.1083/jcb.201906076.
Su, Ming-Yuan, Simon A. Fromm, Jonathan Remis, Daniel B. Toso e James H. Hurley. "Structural basis for the ARF GAP activity and specificity of the C9orf72 complex". Nature Communications 12, n. 1 (18 giugno 2021). http://dx.doi.org/10.1038/s41467-021-24081-0.
Jo, Yunhee, Jiwon Lee, Seul-Yi Lee, Ilmin Kwon e Hana Cho. "Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS". Proceedings of the National Academy of Sciences 119, n. 11 (8 marzo 2022). http://dx.doi.org/10.1073/pnas.2113813119.
Coyne, Alyssa N., e Jeffrey D. Rothstein. "Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD". Acta Neuropathologica Communications 9, n. 1 (19 marzo 2021). http://dx.doi.org/10.1186/s40478-021-01150-5.
Viera Ortiz, Ashley P., Gregory Cajka, Olamide A. Olatunji, Bailey Mikytuck, Ophir Shalem e Edward B. Lee. "Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins". Brain, 14 dicembre 2022. http://dx.doi.org/10.1093/brain/awac479.
Nishimura, Agnes L., e Natalia Arias. "Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion". Frontiers in Cellular Neuroscience 15 (1 giugno 2021). http://dx.doi.org/10.3389/fncel.2021.660693.
Xiao, Shangxi, Paul M. McKeever, Agnes Lau e Janice Robertson. "Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels". Acta Neuropathologica Communications 7, n. 1 (24 ottobre 2019). http://dx.doi.org/10.1186/s40478-019-0812-5.
Dickson, Dennis W., Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman et al. "Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers". Acta Neuropathologica Communications 7, n. 1 (8 ottobre 2019). http://dx.doi.org/10.1186/s40478-019-0797-0.
Zhang, Shen, Mindan Tong, Denghao Zheng, Huiying Huang, Linsen Li, Christian Ungermann, Yi Pan et al. "C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy". Nature Communications 14, n. 1 (11 ottobre 2023). http://dx.doi.org/10.1038/s41467-023-42003-0.