Journal articles on the topic '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, no. 18 (April 17, 2020): 9876–83. http://dx.doi.org/10.1073/pnas.2002110117.
Full textNörpel, Julia, Simone Cavadini, Andreas D. Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A. Chao, and Varun Bhaskar. "Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture." PLOS Biology 19, no. 7 (July 23, 2021): e3001344. http://dx.doi.org/10.1371/journal.pbio.3001344.
Full textYang, Mei, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, and Jian-Fu Chen. "A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy." Science Advances 2, no. 9 (September 2016): e1601167. http://dx.doi.org/10.1126/sciadv.1601167.
Full textAmick, Joseph, Arun Kumar Tharkeshwar, Catherine Amaya,, and Shawn M. Ferguson. "WDR41 supports lysosomal response to changes in amino acid availability." Molecular Biology of the Cell 29, no. 18 (September 2018): 2213–27. http://dx.doi.org/10.1091/mbc.e17-12-0703.
Full textAmick, Joseph, Agnes Roczniak-Ferguson, and Shawn M. Ferguson. "C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling." Molecular Biology of the Cell 27, no. 20 (October 15, 2016): 3040–51. http://dx.doi.org/10.1091/mbc.e16-01-0003.
Full textChandra, Sunandini, and C. Patrick Lusk. "Emerging Connections between Nuclear Pore Complex Homeostasis and ALS." International Journal of Molecular Sciences 23, no. 3 (January 25, 2022): 1329. http://dx.doi.org/10.3390/ijms23031329.
Full textAlvarez-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, no. 6 (June 8, 2022): 1129. http://dx.doi.org/10.3390/antiox11061129.
Full textMcAlpine, 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, no. 49 (November 15, 2018): E11523—E11531. http://dx.doi.org/10.1073/pnas.1814753115.
Full textLiang, Chen, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, and 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, no. 23 (October 18, 2019): 3940–53. http://dx.doi.org/10.1093/hmg/ddz230.
Full textTalaia, Gabriel, Joseph Amick, and 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, no. 8 (February 17, 2021): e2014941118. http://dx.doi.org/10.1073/pnas.2014941118.
Full textWang, Tao, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na, and Jiou Wang. "C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly." Cell Metabolism 33, no. 3 (March 2021): 531–46. http://dx.doi.org/10.1016/j.cmet.2021.01.005.
Full textTang, Dan, Jingwen Sheng, Liangting Xu, Chuangye Yan, and Shiqian Qi. "The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases." Autophagy 16, no. 8 (June 17, 2020): 1542–43. http://dx.doi.org/10.1080/15548627.2020.1779473.
Full textCoyne, Alyssa N., Victoria Baskerville, Benjamin L. Zaepfel, Dennis W. Dickson, Frank Rigo, Frank Bennett, C. Patrick Lusk, and 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, no. 604 (July 28, 2021): eabe1923. http://dx.doi.org/10.1126/scitranslmed.abe1923.
Full textFukatsu, Shoya, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, and Junji Yamauchi. "Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1." Pathophysiology 31, no. 1 (February 9, 2024): 100–116. http://dx.doi.org/10.3390/pathophysiology31010008.
Full textDombroski, Beth A., Douglas R. Galasko, Ignacio F. Mata, Cyrus P. Zabetian, Ulla-Katrina Craig, Ralph M. Garruto, Kiyomitsu Oyanagi, and Gerard D. Schellenberg. "C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex." JAMA Neurology 70, no. 6 (June 1, 2013): 742. http://dx.doi.org/10.1001/jamaneurol.2013.1817.
Full textCook, 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, no. 559 (September 2, 2020): eabb3774. http://dx.doi.org/10.1126/scitranslmed.abb3774.
Full textSu, Ming-Yuan, Simon A. Fromm, Roberto Zoncu, and James H. Hurley. "Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD." Nature 585, no. 7824 (August 26, 2020): 251–55. http://dx.doi.org/10.1038/s41586-020-2633-x.
Full textHodges, John. "Frontotemporal dementia and autism spectrum disorder: complex bedfellows." Journal of Neurology, Neurosurgery & Psychiatry 94, no. 12 (November 15, 2023): e2.39. http://dx.doi.org/10.1136/jnnp-2023-bnpa.8.
Full textCosta, 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, no. 24 (September 17, 2020): e3288-e3302. http://dx.doi.org/10.1212/wnl.0000000000010914.
Full textGoodman, 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, no. 6 (May 20, 2019): 863–74. http://dx.doi.org/10.1038/s41593-019-0396-1.
Full textLee, Jongbo, Jumin Park, Ji-hyung Kim, Giwook Lee, Tae-Eun Park, Ki-Jun Yoon, Yoon Ki Kim, and Chunghun Lim. "LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient." PLOS Biology 18, no. 12 (December 23, 2020): e3001002. http://dx.doi.org/10.1371/journal.pbio.3001002.
Full textWebster, 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, no. 15 (June 22, 2016): 1656–76. http://dx.doi.org/10.15252/embj.201694401.
Full textSiuda, 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, no. 1-2 (2014): 64–71. http://dx.doi.org/10.1159/000362267.
Full textKaur, 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, no. 3 (October 8, 2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.
Full textTakada, Leonel T. "The Genetics of Monogenic Frontotemporal Dementia." Dementia & Neuropsychologia 9, no. 3 (September 2015): 219–29. http://dx.doi.org/10.1590/1980-57642015dn93000003.
Full textShi, 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, no. 7 (January 9, 2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.
Full textWong, Ching-On, and Kartik Venkatachalam. "Motor neurons from ALS patients with mutations in C9ORF72 and SOD1 exhibit distinct transcriptional landscapes." Human Molecular Genetics 28, no. 16 (May 20, 2019): 2799–810. http://dx.doi.org/10.1093/hmg/ddz104.
Full textMorello, Giovanna, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti, and Sebastiano Cavallaro. "Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family." Journal of Personalized Medicine 10, no. 4 (December 2, 2020): 262. http://dx.doi.org/10.3390/jpm10040262.
Full textde 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, no. 1 (November 11, 2020): 86–95. http://dx.doi.org/10.1136/jnnp-2020-322983.
Full textOrtiz, Genaro Gabriel, Javier Ramírez-Jirano, Raul L. Arizaga, Daniela L. C. Delgado-Lara, and Erandis D. Torres-Sánchez. "Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach." Brain Sciences 13, no. 10 (October 18, 2023): 1474. http://dx.doi.org/10.3390/brainsci13101474.
Full textFletcher, Phillip, Jonathan Schott, Martin Rossor, and Jason Warren. "ABNORMAL SOUND AND MUSIC REWARD PROCESSING IN DEMENTIA: A BEHAVIOURAL AND NEUROANATOMICAL ANALYSIS." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (October 14, 2015): e4.136-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.46.
Full textMassano, João, Miguel Leão, Carolina Garrett, and 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, no. 10 (October 31, 2016): 675. http://dx.doi.org/10.20344/amp.7583.
Full textWallace, Amelia D., Thomas A. Sasani, Jordan Swanier, Brooke L. Gates, Jeff Greenland, Brent S. Pedersen, Katherine E. Varley, and Aaron R. Quinlan. "CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing." PLOS ONE 16, no. 4 (April 8, 2021): e0241253. http://dx.doi.org/10.1371/journal.pone.0241253.
Full textLeray, Xavier, Rossella Conti, Yan Li, Cécile Debacker, Florence Castelli, François Fenaille, Anselm A. Zdebik, Michael Pusch, and Bruno Gasnier. "Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism." Proceedings of the National Academy of Sciences 118, no. 32 (August 3, 2021): e2025315118. http://dx.doi.org/10.1073/pnas.2025315118.
Full textBožič, Tim, Matja Zalar, Boris Rogelj, Janez Plavec, and Primož Šket. "Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD." Molecules 25, no. 3 (January 25, 2020): 525. http://dx.doi.org/10.3390/molecules25030525.
Full textAmador, 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, no. 6 (November 13, 2019): e374. http://dx.doi.org/10.1212/nxg.0000000000000374.
Full textKim, 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, no. 14 (April 1, 2019): 2309–18. http://dx.doi.org/10.1093/hmg/ddz063.
Full textIyer, Shalini, Vasanta Subramanian, and K. Ravi Acharya. "C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor." PeerJ 6 (October 17, 2018): e5815. http://dx.doi.org/10.7717/peerj.5815.
Full textShehjar, Faheem, Daniyah A. Almarghalani, Reetika Mahajan, Syed A. M. Hasan, and Zahoor A. Shah. "The Multifaceted Role of Cofilin in Neurodegeneration and Stroke: Insights into Pathogenesis and Targeting as a Therapy." Cells 13, no. 2 (January 18, 2024): 188. http://dx.doi.org/10.3390/cells13020188.
Full textMandrioli, 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, no. 5 (May 2019): e028486. http://dx.doi.org/10.1136/bmjopen-2018-028486.
Full textTang, 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, no. 50 (December 8, 2023). http://dx.doi.org/10.1073/pnas.2220496120.
Full textAmick, Joseph, Arun Kumar Tharkeshwar, Gabriel Talaia, and Shawn M. Ferguson. "PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation." Journal of Cell Biology 219, no. 1 (December 18, 2019). http://dx.doi.org/10.1083/jcb.201906076.
Full textSu, Ming-Yuan, Simon A. Fromm, Jonathan Remis, Daniel B. Toso, and James H. Hurley. "Structural basis for the ARF GAP activity and specificity of the C9orf72 complex." Nature Communications 12, no. 1 (June 18, 2021). http://dx.doi.org/10.1038/s41467-021-24081-0.
Full textJo, Yunhee, Jiwon Lee, Seul-Yi Lee, Ilmin Kwon, and Hana Cho. "Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS." Proceedings of the National Academy of Sciences 119, no. 11 (March 8, 2022). http://dx.doi.org/10.1073/pnas.2113813119.
Full textCoyne, Alyssa N., and Jeffrey D. Rothstein. "Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD." Acta Neuropathologica Communications 9, no. 1 (March 19, 2021). http://dx.doi.org/10.1186/s40478-021-01150-5.
Full textViera Ortiz, Ashley P., Gregory Cajka, Olamide A. Olatunji, Bailey Mikytuck, Ophir Shalem, and Edward B. Lee. "Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins." Brain, December 14, 2022. http://dx.doi.org/10.1093/brain/awac479.
Full textNishimura, Agnes L., and Natalia Arias. "Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion." Frontiers in Cellular Neuroscience 15 (June 1, 2021). http://dx.doi.org/10.3389/fncel.2021.660693.
Full textXiao, Shangxi, Paul M. McKeever, Agnes Lau, and Janice Robertson. "Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels." Acta Neuropathologica Communications 7, no. 1 (October 24, 2019). http://dx.doi.org/10.1186/s40478-019-0812-5.
Full textDickson, 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, no. 1 (October 8, 2019). http://dx.doi.org/10.1186/s40478-019-0797-0.
Full textZhang, 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, no. 1 (October 11, 2023). http://dx.doi.org/10.1038/s41467-023-42003-0.
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