Artículos de revistas sobre el tema "Complexe C9ORF72"
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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 completoAlvarez-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 junio de 2022): 1129. http://dx.doi.org/10.3390/antiox11061129.
Texto completoNörpel, Julia, Simone Cavadini, Andreas D. Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A. Chao y Varun Bhaskar. "Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture". PLOS Biology 19, n.º 7 (23 de julio de 2021): e3001344. http://dx.doi.org/10.1371/journal.pbio.3001344.
Texto completoAmick, Joseph, Arun Kumar Tharkeshwar, Catherine Amaya, y Shawn M. Ferguson. "WDR41 supports lysosomal response to changes in amino acid availability". Molecular Biology of the Cell 29, n.º 18 (septiembre de 2018): 2213–27. http://dx.doi.org/10.1091/mbc.e17-12-0703.
Texto completoYang, Mei, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar y Jian-Fu Chen. "A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy". Science Advances 2, n.º 9 (septiembre de 2016): e1601167. http://dx.doi.org/10.1126/sciadv.1601167.
Texto completoAmick, Joseph, Agnes Roczniak-Ferguson y Shawn M. Ferguson. "C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling". Molecular Biology of the Cell 27, n.º 20 (15 de octubre de 2016): 3040–51. http://dx.doi.org/10.1091/mbc.e16-01-0003.
Texto completoIyer, Shalini, Vasanta Subramanian y K. Ravi Acharya. "C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor". PeerJ 6 (17 de octubre de 2018): e5815. http://dx.doi.org/10.7717/peerj.5815.
Texto completoChandra, Sunandini y C. Patrick Lusk. "Emerging Connections between Nuclear Pore Complex Homeostasis and ALS". International Journal of Molecular Sciences 23, n.º 3 (25 de enero de 2022): 1329. http://dx.doi.org/10.3390/ijms23031329.
Texto completoAbabneh, Nidaa A., Jakub Scaber, Rowan Flynn, Andrew Douglas, Paola Barbagallo, Ana Candalija, Martin R. Turner et al. "Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair". Human Molecular Genetics 29, n.º 13 (5 de junio de 2020): 2200–2217. http://dx.doi.org/10.1093/hmg/ddaa106.
Texto completoLiang, Chen, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen y 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 octubre de 2019): 3940–53. http://dx.doi.org/10.1093/hmg/ddz230.
Texto completoVidhyasagar, Venkatasubramanian, Yujiong He, Manhong Guo, Tanu Talwar, Ravi Shankar Singh, Manisha Yadav, George Katselis, Franco J. Vizeacoumar, Kiven E. Lukong y Yuliang Wu. "Biochemical characterization of INTS3 and C9ORF80, two subunits of hNABP1/2 heterotrimeric complex in nucleic acid binding". Biochemical Journal 475, n.º 1 (2 de enero de 2018): 45–60. http://dx.doi.org/10.1042/bcj20170351.
Texto completoMcAlpine, 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 noviembre de 2018): E11523—E11531. http://dx.doi.org/10.1073/pnas.1814753115.
Texto completoTalaia, Gabriel, Joseph Amick y 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 febrero de 2021): e2014941118. http://dx.doi.org/10.1073/pnas.2014941118.
Texto completoFumagalli, Laura, Florence L. Young, Steven Boeynaems, Mathias De Decker, Arpan R. Mehta, Ann Swijsen, Raheem Fazal et al. "C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility". Science Advances 7, n.º 15 (abril de 2021): eabg3013. http://dx.doi.org/10.1126/sciadv.abg3013.
Texto completoFukatsu, Shoya, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto y 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 febrero de 2024): 100–116. http://dx.doi.org/10.3390/pathophysiology31010008.
Texto completoCook, 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 septiembre de 2020): eabb3774. http://dx.doi.org/10.1126/scitranslmed.abb3774.
Texto completoCoyne, Alyssa N., Victoria Baskerville, Benjamin L. Zaepfel, Dennis W. Dickson, Frank Rigo, Frank Bennett, C. Patrick Lusk y 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 julio de 2021): eabe1923. http://dx.doi.org/10.1126/scitranslmed.abe1923.
Texto completoCosta, 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 septiembre de 2020): e3288-e3302. http://dx.doi.org/10.1212/wnl.0000000000010914.
Texto completoLee, Jongbo, Jumin Park, Ji-hyung Kim, Giwook Lee, Tae-Eun Park, Ki-Jun Yoon, Yoon Ki Kim y Chunghun Lim. "LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient". PLOS Biology 18, n.º 12 (23 de diciembre de 2020): e3001002. http://dx.doi.org/10.1371/journal.pbio.3001002.
Texto completoKaur, 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 octubre de 2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.
Texto completoTakada, Leonel T. "The Genetics of Monogenic Frontotemporal Dementia". Dementia & Neuropsychologia 9, n.º 3 (septiembre de 2015): 219–29. http://dx.doi.org/10.1590/1980-57642015dn93000003.
Texto completoShi, 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 enero de 2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.
Texto completoWong, Ching-On y 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 mayo de 2019): 2799–810. http://dx.doi.org/10.1093/hmg/ddz104.
Texto completoMorello, Giovanna, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti y 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 diciembre de 2020): 262. http://dx.doi.org/10.3390/jpm10040262.
Texto completode 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 noviembre de 2020): 86–95. http://dx.doi.org/10.1136/jnnp-2020-322983.
Texto completoOrtiz, Genaro Gabriel, Javier Ramírez-Jirano, Raul L. Arizaga, Daniela L. C. Delgado-Lara y Erandis D. Torres-Sánchez. "Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach". Brain Sciences 13, n.º 10 (18 de octubre de 2023): 1474. http://dx.doi.org/10.3390/brainsci13101474.
Texto completoFletcher, Phillip, Jonathan Schott, Martin Rossor y 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 octubre de 2015): e4.136-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.46.
Texto completoMassano, João, Miguel Leão, Carolina Garrett y 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 octubre de 2016): 675. http://dx.doi.org/10.20344/amp.7583.
Texto completoSkaar, Jeffrey R., Derek J. Richard, Anita Saraf, Alfredo Toschi, Emma Bolderson, Laurence Florens, Michael P. Washburn, Kum Kum Khanna y Michele Pagano. "INTS3 controls the hSSB1-mediated DNA damage response". Journal of Cell Biology 187, n.º 1 (28 de septiembre de 2009): 25–32. http://dx.doi.org/10.1083/jcb.200907026.
Texto completoWallace, Amelia D., Thomas A. Sasani, Jordan Swanier, Brooke L. Gates, Jeff Greenland, Brent S. Pedersen, Katherine E. Varley y 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 completoLeray, Xavier, Rossella Conti, Yan Li, Cécile Debacker, Florence Castelli, François Fenaille, Anselm A. Zdebik, Michael Pusch y 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 completoBožič, Tim, Matja Zalar, Boris Rogelj, Janez Plavec y Primož Šket. "Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD". Molecules 25, n.º 3 (25 de enero de 2020): 525. http://dx.doi.org/10.3390/molecules25030525.
Texto completoAmador, 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 noviembre de 2019): e374. http://dx.doi.org/10.1212/nxg.0000000000000374.
Texto completoKim, 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 completoShehjar, Faheem, Daniyah A. Almarghalani, Reetika Mahajan, Syed A. M. Hasan y 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 enero de 2024): 188. http://dx.doi.org/10.3390/cells13020188.
Texto completoMandrioli, 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 (mayo de 2019): e028486. http://dx.doi.org/10.1136/bmjopen-2018-028486.
Texto completoRahn, Kerstin, Isabel Naarmann-de Vries, Yvonne Sackmann, Felicitas Klein, Antje Ostareck-Lederer, Dirk Ostareck, Edgar Jost et al. "Role of hnRNP K and Interacting mRNAs in Pathogenesis of AML with 9q Deletion". Blood 132, Supplement 1 (29 de noviembre de 2018): 1531. http://dx.doi.org/10.1182/blood-2018-99-114699.
Texto completoShi, Wei, Therese Vu, Glen Boyle, Fares Al-Ejeh, Tej Pandita, Krzysztof Ginalski, Maga Rowicka, Steven W. Lane y Kum Kum Khanna. "SSB1/NABP2 and SSB2/NABP1 Have Essential and Overlapping Roles in Maintaining Hematopoietic Stem and Progenitor Cells". Blood 126, n.º 23 (3 de diciembre de 2015): 2405. http://dx.doi.org/10.1182/blood.v126.23.2405.2405.
Texto completoTang, 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 diciembre de 2023). http://dx.doi.org/10.1073/pnas.2220496120.
Texto completoAmick, Joseph, Arun Kumar Tharkeshwar, Gabriel Talaia y 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 diciembre de 2019). http://dx.doi.org/10.1083/jcb.201906076.
Texto completoXiao, Shangxi, Paul M. McKeever, Agnes Lau y Janice Robertson. "Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels". Acta Neuropathologica Communications 7, n.º 1 (24 de octubre de 2019). http://dx.doi.org/10.1186/s40478-019-0812-5.
Texto completoZhang, 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 octubre de 2023). http://dx.doi.org/10.1038/s41467-023-42003-0.
Texto completoSu, Ming-Yuan, Simon A. Fromm, Jonathan Remis, Daniel B. Toso y James H. Hurley. "Structural basis for the ARF GAP activity and specificity of the C9orf72 complex". Nature Communications 12, n.º 1 (18 de junio de 2021). http://dx.doi.org/10.1038/s41467-021-24081-0.
Texto completoCoyne, Alyssa N. y Jeffrey D. Rothstein. "Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD". Acta Neuropathologica Communications 9, n.º 1 (19 de marzo de 2021). http://dx.doi.org/10.1186/s40478-021-01150-5.
Texto completoJo, Yunhee, Jiwon Lee, Seul-Yi Lee, Ilmin Kwon y 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 marzo de 2022). http://dx.doi.org/10.1073/pnas.2113813119.
Texto completoNishimura, Agnes L. y Natalia Arias. "Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion". Frontiers in Cellular Neuroscience 15 (1 de junio de 2021). http://dx.doi.org/10.3389/fncel.2021.660693.
Texto completoDickson, 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 octubre de 2019). http://dx.doi.org/10.1186/s40478-019-0797-0.
Texto completoViera Ortiz, Ashley P., Gregory Cajka, Olamide A. Olatunji, Bailey Mikytuck, Ophir Shalem y Edward B. Lee. "Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins". Brain, 14 de diciembre de 2022. http://dx.doi.org/10.1093/brain/awac479.
Texto completoAzimian, Fereshteh, Yan‐Hua Chen y Qun Lu. "Targeting the Interactions of Small GTPase ARF with C9ORF72:SMCR8:WDR41 Complexes Implicated in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia". Alzheimer's & Dementia 19, S21 (diciembre de 2023). http://dx.doi.org/10.1002/alz.076804.
Texto completoRobinson, Hayley, Sk Imran Ali, Martha Elena Diaz-Hernandez y Rodrigo Lopez-Gonzalez. "Telomere Attrition in Induced Pluripotent Stem Cell-Derived Neurons From ALS/FTD-Related C9ORF72 Repeat Expansion Carriers". Frontiers in Cell and Developmental Biology 10 (13 de junio de 2022). http://dx.doi.org/10.3389/fcell.2022.874323.
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