Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Abstract Background Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in motor neurons of almost all amyotrophic lateral sclerosis (ALS) patients, and mutations in TDP-43 are also present in ALS. Loss and gain of TDP-43 functions are implicated in pathogenesis, but the mechanisms...

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Main Authors: Anna Konopka, Donna R. Whelan, Md Shafi Jamali, Emma Perri, Hamideh Shahheydari, Reka P. Toth, Sonam Parakh, Tina Robinson, Alison Cheong, Prachi Mehta, Marta Vidal, Audrey M. G. Ragagnin, Ivan Khizhnyak, Cyril J. Jagaraj, Jasmin Galper, Natalie Grima, Anand Deva, Sina Shadfar, Garth A. Nicholson, Shu Yang, Suzanne M. Cutts, Zuzana Horejsi, Toby D. M. Bell, Adam K. Walker, Ian P. Blair, Julie D. Atkin
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Molecular Neurodegeneration
Subjects:
DNA damage
TDP-43 mutations
NHEJ
Super-resolution microscopy
Online Access:http://link.springer.com/article/10.1186/s13024-020-00386-4

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