Results 151 to 160 of about 9,658 (171)

Arrayed dual-gRNA CRISPR screening platform for <i>C9orf72</i> repeat expansion excision in patient iPSCs. [PDF]

Mol Ther Adv
Arogundade OA, Lam KJK, Brown KA, Jain T, Issagholian-Lewin PO, Huang C, Rae-Hudson T, Briseno K, Wyman SK, Krishnappa N, George CA, O'Dare K, Wilson RHC, van Eijk P, Reed SH, Giannikopoulos P, Clelland CD.   +16 more
europepmc   +1 more source

Population-scale repeat expansions elucidate disease risk and brain atrophy. [PDF]

Nature
Pounraja VK, Sul JH, Herman J, O'Keeffe S, Rajagopal V, Bai X, Kessler MD, Parikshak N, Landheer K, Zhang X, Yu S, Zhang L, LeBlanc MG, Rico-Varela J, Grau F, Wolf S, Sundaramoorthy S, Sepehrband F, Stahl EA, Huo Y, Ahmed M, Croll S, GHS-RGC DiscovEHR Collaboration, Mayo-RGC Project Generation, Penn Medicine BioBank, Salerno W, Overton JD, Marchini J, Reid J, Lotta LA, Baras A, Regeneron Genetics Center, Abecasis GR, Coppola G, Gelfman S.   +34 more
europepmc   +1 more source

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion [PDF]

Neurobiology of Aging, 2014
An intronic G4C2 hexanucleotide repeat expansion in C9ORF72 is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Adrian J Waite, Dirk Bäumer, James Neal   +2 more
exaly   +2 more sources

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ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72-associated ALS/FTD

Nucleic Acids Research, 2021
Jongbo Lee, Ji-Hyung Kim, Chunghun Lim   +2 more
exaly  

C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation

EMBO Journal, 2022
Nausicaa V Licata, Riccardo Cristofani, Sally Salomonsson   +2 more
exaly  

C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly

Cell Metabolism, 2021
Honghe Liu, Kie Itoh, Sungtaek Oh
exaly  

p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)

Cell, 2021
Maya Maor-Nof, Zohar Shipony, Rodrigo López-González   +2 more
exaly