Artykuły w czasopismach na temat „Complexe C9ORF72”
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Tang, Dan, Jingwen Sheng, Liangting Xu, Xiechao Zhan, Jiaming Liu, Hui Jiang, Xiaoling Shu i in. "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, nr 18 (17.04.2020): 9876–83. http://dx.doi.org/10.1073/pnas.2002110117.
Pełny tekst źródłaAlvarez-Mora, Maria Isabel, Gloria Garrabou, Tamara Barcos, Francisco Garcia-Garcia, Ruben Grillo-Risco, Emma Peruga, Laura Gort i in. "Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients". Antioxidants 11, nr 6 (8.06.2022): 1129. http://dx.doi.org/10.3390/antiox11061129.
Pełny tekst źródłaNörpel, Julia, Simone Cavadini, Andreas D. Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A. Chao i Varun Bhaskar. "Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture". PLOS Biology 19, nr 7 (23.07.2021): e3001344. http://dx.doi.org/10.1371/journal.pbio.3001344.
Pełny tekst źródłaAmick, Joseph, Arun Kumar Tharkeshwar, Catherine Amaya, i Shawn M. Ferguson. "WDR41 supports lysosomal response to changes in amino acid availability". Molecular Biology of the Cell 29, nr 18 (wrzesień 2018): 2213–27. http://dx.doi.org/10.1091/mbc.e17-12-0703.
Pełny tekst źródłaYang, Mei, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar i Jian-Fu Chen. "A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy". Science Advances 2, nr 9 (wrzesień 2016): e1601167. http://dx.doi.org/10.1126/sciadv.1601167.
Pełny tekst źródłaAmick, Joseph, Agnes Roczniak-Ferguson i Shawn M. Ferguson. "C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling". Molecular Biology of the Cell 27, nr 20 (15.10.2016): 3040–51. http://dx.doi.org/10.1091/mbc.e16-01-0003.
Pełny tekst źródłaIyer, Shalini, Vasanta Subramanian i K. Ravi Acharya. "C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor". PeerJ 6 (17.10.2018): e5815. http://dx.doi.org/10.7717/peerj.5815.
Pełny tekst źródłaChandra, Sunandini, i C. Patrick Lusk. "Emerging Connections between Nuclear Pore Complex Homeostasis and ALS". International Journal of Molecular Sciences 23, nr 3 (25.01.2022): 1329. http://dx.doi.org/10.3390/ijms23031329.
Pełny tekst źródłaAbabneh, Nidaa A., Jakub Scaber, Rowan Flynn, Andrew Douglas, Paola Barbagallo, Ana Candalija, Martin R. Turner i in. "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, nr 13 (5.06.2020): 2200–2217. http://dx.doi.org/10.1093/hmg/ddaa106.
Pełny tekst źródłaLiang, Chen, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen i 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, nr 23 (18.10.2019): 3940–53. http://dx.doi.org/10.1093/hmg/ddz230.
Pełny tekst źródłaVidhyasagar, Venkatasubramanian, Yujiong He, Manhong Guo, Tanu Talwar, Ravi Shankar Singh, Manisha Yadav, George Katselis, Franco J. Vizeacoumar, Kiven E. Lukong i Yuliang Wu. "Biochemical characterization of INTS3 and C9ORF80, two subunits of hNABP1/2 heterotrimeric complex in nucleic acid binding". Biochemical Journal 475, nr 1 (2.01.2018): 45–60. http://dx.doi.org/10.1042/bcj20170351.
Pełny tekst źródłaMcAlpine, William, Lei Sun, Kuan-wen Wang, Aijie Liu, Ruchi Jain, Miguel San Miguel, Jianhui Wang i in. "Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function". Proceedings of the National Academy of Sciences 115, nr 49 (15.11.2018): E11523—E11531. http://dx.doi.org/10.1073/pnas.1814753115.
Pełny tekst źródłaTalaia, Gabriel, Joseph Amick i 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, nr 8 (17.02.2021): e2014941118. http://dx.doi.org/10.1073/pnas.2014941118.
Pełny tekst źródłaFumagalli, Laura, Florence L. Young, Steven Boeynaems, Mathias De Decker, Arpan R. Mehta, Ann Swijsen, Raheem Fazal i in. "C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility". Science Advances 7, nr 15 (kwiecień 2021): eabg3013. http://dx.doi.org/10.1126/sciadv.abg3013.
Pełny tekst źródłaFukatsu, Shoya, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto i Junji Yamauchi. "Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1". Pathophysiology 31, nr 1 (9.02.2024): 100–116. http://dx.doi.org/10.3390/pathophysiology31010008.
Pełny tekst źródłaCook, Casey N., Yanwei Wu, Hana M. Odeh, Tania F. Gendron, Karen Jansen-West, Giulia del Rosso, Mei Yue i in. "C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy". Science Translational Medicine 12, nr 559 (2.09.2020): eabb3774. http://dx.doi.org/10.1126/scitranslmed.abb3774.
Pełny tekst źródłaCoyne, Alyssa N., Victoria Baskerville, Benjamin L. Zaepfel, Dennis W. Dickson, Frank Rigo, Frank Bennett, C. Patrick Lusk i 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, nr 604 (28.07.2021): eabe1923. http://dx.doi.org/10.1126/scitranslmed.abe1923.
Pełny tekst źródłaCosta, Beatrice, Claudia Manzoni, Manuel Bernal-Quiros, Demis A. Kia, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez i in. "C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts". Neurology 95, nr 24 (17.09.2020): e3288-e3302. http://dx.doi.org/10.1212/wnl.0000000000010914.
Pełny tekst źródłaLee, Jongbo, Jumin Park, Ji-hyung Kim, Giwook Lee, Tae-Eun Park, Ki-Jun Yoon, Yoon Ki Kim i Chunghun Lim. "LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient". PLOS Biology 18, nr 12 (23.12.2020): e3001002. http://dx.doi.org/10.1371/journal.pbio.3001002.
Pełny tekst źródłaKaur, Jaslovleen, Shaista Parveen, Uzma Shamim, Pooja Sharma, Varun Suroliya, Akhilesh Kumar Sonkar, Istaq Ahmad i in. "Investigations of Huntington’s Disease and Huntington’s Disease-Like Syndromes in Indian Choreatic Patients". Journal of Huntington's Disease 9, nr 3 (8.10.2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.
Pełny tekst źródłaTakada, Leonel T. "The Genetics of Monogenic Frontotemporal Dementia". Dementia & Neuropsychologia 9, nr 3 (wrzesień 2015): 219–29. http://dx.doi.org/10.1590/1980-57642015dn93000003.
Pełny tekst źródłaShi, Kevin Y., Eiichiro Mori, Zehra F. Nizami, Yi Lin, Masato Kato, Siheng Xiang, Leeju C. Wu i in. "Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export". Proceedings of the National Academy of Sciences 114, nr 7 (9.01.2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.
Pełny tekst źródłaWong, Ching-On, i Kartik Venkatachalam. "Motor neurons from ALS patients with mutations in C9ORF72 and SOD1 exhibit distinct transcriptional landscapes". Human Molecular Genetics 28, nr 16 (20.05.2019): 2799–810. http://dx.doi.org/10.1093/hmg/ddz104.
Pełny tekst źródłaMorello, Giovanna, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti i Sebastiano Cavallaro. "Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family". Journal of Personalized Medicine 10, nr 4 (2.12.2020): 262. http://dx.doi.org/10.3390/jpm10040262.
Pełny tekst źródłade Boer, Eva Maria Johanna, Viyanti K. Orie, Timothy Williams, Mark R. Baker, Hugo M. De Oliveira, Tuomo Polvikoski, Matthew Silsby i in. "TDP-43 proteinopathies: a new wave of neurodegenerative diseases". Journal of Neurology, Neurosurgery & Psychiatry 92, nr 1 (11.11.2020): 86–95. http://dx.doi.org/10.1136/jnnp-2020-322983.
Pełny tekst źródłaOrtiz, Genaro Gabriel, Javier Ramírez-Jirano, Raul L. Arizaga, Daniela L. C. Delgado-Lara i Erandis D. Torres-Sánchez. "Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach". Brain Sciences 13, nr 10 (18.10.2023): 1474. http://dx.doi.org/10.3390/brainsci13101474.
Pełny tekst źródłaFletcher, Phillip, Jonathan Schott, Martin Rossor i Jason Warren. "ABNORMAL SOUND AND MUSIC REWARD PROCESSING IN DEMENTIA: A BEHAVIOURAL AND NEUROANATOMICAL ANALYSIS". Journal of Neurology, Neurosurgery & Psychiatry 86, nr 11 (14.10.2015): e4.136-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.46.
Pełny tekst źródłaMassano, João, Miguel Leão, Carolina Garrett i 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, nr 10 (31.10.2016): 675. http://dx.doi.org/10.20344/amp.7583.
Pełny tekst źródłaSkaar, Jeffrey R., Derek J. Richard, Anita Saraf, Alfredo Toschi, Emma Bolderson, Laurence Florens, Michael P. Washburn, Kum Kum Khanna i Michele Pagano. "INTS3 controls the hSSB1-mediated DNA damage response". Journal of Cell Biology 187, nr 1 (28.09.2009): 25–32. http://dx.doi.org/10.1083/jcb.200907026.
Pełny tekst źródłaWallace, Amelia D., Thomas A. Sasani, Jordan Swanier, Brooke L. Gates, Jeff Greenland, Brent S. Pedersen, Katherine E. Varley i Aaron R. Quinlan. "CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing". PLOS ONE 16, nr 4 (8.04.2021): e0241253. http://dx.doi.org/10.1371/journal.pone.0241253.
Pełny tekst źródłaLeray, Xavier, Rossella Conti, Yan Li, Cécile Debacker, Florence Castelli, François Fenaille, Anselm A. Zdebik, Michael Pusch i Bruno Gasnier. "Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism". Proceedings of the National Academy of Sciences 118, nr 32 (3.08.2021): e2025315118. http://dx.doi.org/10.1073/pnas.2025315118.
Pełny tekst źródłaBožič, Tim, Matja Zalar, Boris Rogelj, Janez Plavec i Primož Šket. "Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD". Molecules 25, nr 3 (25.01.2020): 525. http://dx.doi.org/10.3390/molecules25030525.
Pełny tekst źródłaAmador, Maria-Del-Mar, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine i in. "Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS". Neurology Genetics 5, nr 6 (13.11.2019): e374. http://dx.doi.org/10.1212/nxg.0000000000000374.
Pełny tekst źródłaKim, Hyerim, Junghwa Lim, Han Bao, Bin Jiao, Se Min Canon, Michael P. Epstein, Keqin Xu i in. "Rare variants in MYH15 modify amyotrophic lateral sclerosis risk". Human Molecular Genetics 28, nr 14 (1.04.2019): 2309–18. http://dx.doi.org/10.1093/hmg/ddz063.
Pełny tekst źródłaShehjar, Faheem, Daniyah A. Almarghalani, Reetika Mahajan, Syed A. M. Hasan i Zahoor A. Shah. "The Multifaceted Role of Cofilin in Neurodegeneration and Stroke: Insights into Pathogenesis and Targeting as a Therapy". Cells 13, nr 2 (18.01.2024): 188. http://dx.doi.org/10.3390/cells13020188.
Pełny tekst źródłaMandrioli, Jessica, Valeria Crippa, Cristina Cereda, Valentina Bonetto, Elisabetta Zucchi, Annalisa Gessani, Mauro Ceroni i in. "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, nr 5 (maj 2019): e028486. http://dx.doi.org/10.1136/bmjopen-2018-028486.
Pełny tekst źródłaRahn, Kerstin, Isabel Naarmann-de Vries, Yvonne Sackmann, Felicitas Klein, Antje Ostareck-Lederer, Dirk Ostareck, Edgar Jost i in. "Role of hnRNP K and Interacting mRNAs in Pathogenesis of AML with 9q Deletion". Blood 132, Supplement 1 (29.11.2018): 1531. http://dx.doi.org/10.1182/blood-2018-99-114699.
Pełny tekst źródłaShi, Wei, Therese Vu, Glen Boyle, Fares Al-Ejeh, Tej Pandita, Krzysztof Ginalski, Maga Rowicka, Steven W. Lane i Kum Kum Khanna. "SSB1/NABP2 and SSB2/NABP1 Have Essential and Overlapping Roles in Maintaining Hematopoietic Stem and Progenitor Cells". Blood 126, nr 23 (3.12.2015): 2405. http://dx.doi.org/10.1182/blood.v126.23.2405.2405.
Pełny tekst źródłaTang, Dan, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li i in. "ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis". Proceedings of the National Academy of Sciences 120, nr 50 (8.12.2023). http://dx.doi.org/10.1073/pnas.2220496120.
Pełny tekst źródłaAmick, Joseph, Arun Kumar Tharkeshwar, Gabriel Talaia i Shawn M. Ferguson. "PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation". Journal of Cell Biology 219, nr 1 (18.12.2019). http://dx.doi.org/10.1083/jcb.201906076.
Pełny tekst źródłaXiao, Shangxi, Paul M. McKeever, Agnes Lau i Janice Robertson. "Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels". Acta Neuropathologica Communications 7, nr 1 (24.10.2019). http://dx.doi.org/10.1186/s40478-019-0812-5.
Pełny tekst źródłaZhang, Shen, Mindan Tong, Denghao Zheng, Huiying Huang, Linsen Li, Christian Ungermann, Yi Pan i in. "C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy". Nature Communications 14, nr 1 (11.10.2023). http://dx.doi.org/10.1038/s41467-023-42003-0.
Pełny tekst źródłaSu, Ming-Yuan, Simon A. Fromm, Jonathan Remis, Daniel B. Toso i James H. Hurley. "Structural basis for the ARF GAP activity and specificity of the C9orf72 complex". Nature Communications 12, nr 1 (18.06.2021). http://dx.doi.org/10.1038/s41467-021-24081-0.
Pełny tekst źródłaCoyne, Alyssa N., i Jeffrey D. Rothstein. "Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD". Acta Neuropathologica Communications 9, nr 1 (19.03.2021). http://dx.doi.org/10.1186/s40478-021-01150-5.
Pełny tekst źródłaJo, Yunhee, Jiwon Lee, Seul-Yi Lee, Ilmin Kwon i Hana Cho. "Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS". Proceedings of the National Academy of Sciences 119, nr 11 (8.03.2022). http://dx.doi.org/10.1073/pnas.2113813119.
Pełny tekst źródłaNishimura, Agnes L., i Natalia Arias. "Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion". Frontiers in Cellular Neuroscience 15 (1.06.2021). http://dx.doi.org/10.3389/fncel.2021.660693.
Pełny tekst źródłaDickson, Dennis W., Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman i in. "Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers". Acta Neuropathologica Communications 7, nr 1 (8.10.2019). http://dx.doi.org/10.1186/s40478-019-0797-0.
Pełny tekst źródłaViera Ortiz, Ashley P., Gregory Cajka, Olamide A. Olatunji, Bailey Mikytuck, Ophir Shalem i Edward B. Lee. "Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins". Brain, 14.12.2022. http://dx.doi.org/10.1093/brain/awac479.
Pełny tekst źródłaAzimian, Fereshteh, Yan‐Hua Chen i 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 (grudzień 2023). http://dx.doi.org/10.1002/alz.076804.
Pełny tekst źródłaRobinson, Hayley, Sk Imran Ali, Martha Elena Diaz-Hernandez i 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 (13.06.2022). http://dx.doi.org/10.3389/fcell.2022.874323.
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