Artigos de revistas sobre o 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.º 18 (17 de abril de 2020): 9876–83. http://dx.doi.org/10.1073/pnas.2002110117.
Texto completo da fonteNörpel, 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.º 7 (23 de julho de 2021): e3001344. http://dx.doi.org/10.1371/journal.pbio.3001344.
Texto completo da fonteYang, 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.º 9 (setembro de 2016): e1601167. http://dx.doi.org/10.1126/sciadv.1601167.
Texto completo da fonteAmick, 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.º 18 (setembro de 2018): 2213–27. http://dx.doi.org/10.1091/mbc.e17-12-0703.
Texto completo da fonteAmick, 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.º 20 (15 de outubro de 2016): 3040–51. http://dx.doi.org/10.1091/mbc.e16-01-0003.
Texto completo da fonteChandra, Sunandini, e C. Patrick Lusk. "Emerging Connections between Nuclear Pore Complex Homeostasis and ALS". International Journal of Molecular Sciences 23, n.º 3 (25 de janeiro de 2022): 1329. http://dx.doi.org/10.3390/ijms23031329.
Texto completo da fonteAlvarez-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.º 6 (8 de junho de 2022): 1129. http://dx.doi.org/10.3390/antiox11061129.
Texto completo da fonteMcAlpine, 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.º 49 (15 de novembro de 2018): E11523—E11531. http://dx.doi.org/10.1073/pnas.1814753115.
Texto completo da fonteLiang, 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.º 23 (18 de outubro de 2019): 3940–53. http://dx.doi.org/10.1093/hmg/ddz230.
Texto completo da fonteTalaia, 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.º 8 (17 de fevereiro de 2021): e2014941118. http://dx.doi.org/10.1073/pnas.2014941118.
Texto completo da fonteWang, 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.º 3 (março de 2021): 531–46. http://dx.doi.org/10.1016/j.cmet.2021.01.005.
Texto completo da fonteTang, Dan, Jingwen Sheng, Liangting Xu, Chuangye Yan e Shiqian Qi. "The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases". Autophagy 16, n.º 8 (17 de junho de 2020): 1542–43. http://dx.doi.org/10.1080/15548627.2020.1779473.
Texto completo da fonteCoyne, 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.º 604 (28 de julho de 2021): eabe1923. http://dx.doi.org/10.1126/scitranslmed.abe1923.
Texto completo da fonteFukatsu, 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.º 1 (9 de fevereiro de 2024): 100–116. http://dx.doi.org/10.3390/pathophysiology31010008.
Texto completo da fonteDombroski, 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.º 6 (1 de junho de 2013): 742. http://dx.doi.org/10.1001/jamaneurol.2013.1817.
Texto completo da fonteCook, 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.º 559 (2 de setembro de 2020): eabb3774. http://dx.doi.org/10.1126/scitranslmed.abb3774.
Texto completo da fonteSu, 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.º 7824 (26 de agosto de 2020): 251–55. http://dx.doi.org/10.1038/s41586-020-2633-x.
Texto completo da fonteHodges, John. "Frontotemporal dementia and autism spectrum disorder: complex bedfellows". Journal of Neurology, Neurosurgery & Psychiatry 94, n.º 12 (15 de novembro de 2023): e2.39. http://dx.doi.org/10.1136/jnnp-2023-bnpa.8.
Texto completo da fonteCosta, 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.º 24 (17 de setembro de 2020): e3288-e3302. http://dx.doi.org/10.1212/wnl.0000000000010914.
Texto completo da fonteGoodman, 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.º 6 (20 de maio de 2019): 863–74. http://dx.doi.org/10.1038/s41593-019-0396-1.
Texto completo da fonteLee, 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.º 12 (23 de dezembro de 2020): e3001002. http://dx.doi.org/10.1371/journal.pbio.3001002.
Texto completo da fonteWebster, 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.º 15 (22 de junho de 2016): 1656–76. http://dx.doi.org/10.15252/embj.201694401.
Texto completo da fonteSiuda, 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.º 1-2 (2014): 64–71. http://dx.doi.org/10.1159/000362267.
Texto completo da fonteKaur, 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.º 3 (8 de outubro de 2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.
Texto completo da fonteTakada, Leonel T. "The Genetics of Monogenic Frontotemporal Dementia". Dementia & Neuropsychologia 9, n.º 3 (setembro de 2015): 219–29. http://dx.doi.org/10.1590/1980-57642015dn93000003.
Texto completo da fonteShi, 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.º 7 (9 de janeiro de 2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.
Texto completo da fonteWong, 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.º 16 (20 de maio de 2019): 2799–810. http://dx.doi.org/10.1093/hmg/ddz104.
Texto completo da fonteMorello, 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.º 4 (2 de dezembro de 2020): 262. http://dx.doi.org/10.3390/jpm10040262.
Texto completo da fontede 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.º 1 (11 de novembro de 2020): 86–95. http://dx.doi.org/10.1136/jnnp-2020-322983.
Texto completo da fonteOrtiz, 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.º 10 (18 de outubro de 2023): 1474. http://dx.doi.org/10.3390/brainsci13101474.
Texto completo da fonteFletcher, 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.º 11 (14 de outubro de 2015): e4.136-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.46.
Texto completo da fonteMassano, 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.º 10 (31 de outubro de 2016): 675. http://dx.doi.org/10.20344/amp.7583.
Texto completo da fonteWallace, 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.º 4 (8 de abril de 2021): e0241253. http://dx.doi.org/10.1371/journal.pone.0241253.
Texto completo da fonteLeray, 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.º 32 (3 de agosto de 2021): e2025315118. http://dx.doi.org/10.1073/pnas.2025315118.
Texto completo da fonteBožič, 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.º 3 (25 de janeiro de 2020): 525. http://dx.doi.org/10.3390/molecules25030525.
Texto completo da fonteAmador, 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.º 6 (13 de novembro de 2019): e374. http://dx.doi.org/10.1212/nxg.0000000000000374.
Texto completo da fonteKim, 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.º 14 (1 de abril de 2019): 2309–18. http://dx.doi.org/10.1093/hmg/ddz063.
Texto completo da fonteIyer, 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 de outubro de 2018): e5815. http://dx.doi.org/10.7717/peerj.5815.
Texto completo da fonteShehjar, 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.º 2 (18 de janeiro de 2024): 188. http://dx.doi.org/10.3390/cells13020188.
Texto completo da fonteMandrioli, 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.º 5 (maio de 2019): e028486. http://dx.doi.org/10.1136/bmjopen-2018-028486.
Texto completo da fonteTang, 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.º 50 (8 de dezembro de 2023). http://dx.doi.org/10.1073/pnas.2220496120.
Texto completo da fonteAmick, 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.º 1 (18 de dezembro de 2019). http://dx.doi.org/10.1083/jcb.201906076.
Texto completo da fonteSu, 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.º 1 (18 de junho de 2021). http://dx.doi.org/10.1038/s41467-021-24081-0.
Texto completo da fonteJo, 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.º 11 (8 de março de 2022). http://dx.doi.org/10.1073/pnas.2113813119.
Texto completo da fonteCoyne, Alyssa N., e Jeffrey D. Rothstein. "Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD". Acta Neuropathologica Communications 9, n.º 1 (19 de março de 2021). http://dx.doi.org/10.1186/s40478-021-01150-5.
Texto completo da fonteViera 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 de dezembro de 2022. http://dx.doi.org/10.1093/brain/awac479.
Texto completo da fonteNishimura, Agnes L., e Natalia Arias. "Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion". Frontiers in Cellular Neuroscience 15 (1 de junho de 2021). http://dx.doi.org/10.3389/fncel.2021.660693.
Texto completo da fonteXiao, 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.º 1 (24 de outubro de 2019). http://dx.doi.org/10.1186/s40478-019-0812-5.
Texto completo da fonteDickson, 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.º 1 (8 de outubro de 2019). http://dx.doi.org/10.1186/s40478-019-0797-0.
Texto completo da fonteZhang, 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.º 1 (11 de outubro de 2023). http://dx.doi.org/10.1038/s41467-023-42003-0.
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