Results 201 to 210 of about 14,543 (225)
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No common founder for C9orf72 expansion mutation in Sweden
Journal of Human Genetics, 2016Hexanucleotide expansion mutations in the chromosome 9 open reading frame 72 (C9orf72) gene is the most common genetic cause for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). SNP haplotype analyses have suggested that all C9orf72 expansion mutations originate from a common founder.
Huei-Hsin, Chiang +6 more
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p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)
Cell, 2021Maya Maor-Nof +2 more
exaly
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly
Cell Metabolism, 2021Honghe Liu, Kie Itoh, Sungtaek Oh
exaly
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD
Acta Neuropathologica, 2022Francesca Sironi +2 more
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Cellular and physiological functions of C9ORF72 and implications for ALS/FTD
Journal of Neurochemistry, 2021Fenghua Hu
exaly
2016
Oral Presentations: Session 9: Mechanisms of cell death. [DB 33]
Lynes, Emily Marian +10 more
openaire +1 more source
Oral Presentations: Session 9: Mechanisms of cell death. [DB 33]
Lynes, Emily Marian +10 more
openaire +1 more source
Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a
Proceedings of the National Academy of Sciences of the United States of America, 2020Dan Tang, Liangting Xu, Xiechao Zhan
exaly
Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers
Cell, 2016Yi Lin, Eiichiro Mori, Masato Kato
exaly
The C9orf72 protein interacts with Rab1a and the ULK 1 complex to regulate initiation of autophagy
EMBO Journal, 2016Emma F Smith +2 more
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