TY - JOUR AU - Konopka, Anna AU - Whelan, Donna R. AU - Jamali, Md Shafi AU - Perri, Emma AU - Shahheydari, Hamideh AU - Toth, Reka P. AU - Parakh, Sonam AU - Robinson, Tina AU - Cheong, Alison AU - Mehta, Prachi AU - Vidal, Marta AU - Ragagnin, Audrey M. G. AU - Khizhnyak, Ivan AU - Jagaraj, Cyril J. AU - Galper, Jasmin AU - Grima, Natalie AU - Deva, Anand AU - Shadfar, Sina AU - Nicholson, Garth A. AU - Yang, Shu AU - Cutts, Suzanne M. AU - Horejsi, Zuzana AU - Bell, Toby D. M. AU - Walker, Adam K. AU - Blair, Ian P. AU - Atkin, Julie D. PY - 2020 DA - 2020/09/09 TI - Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations JO - Molecular Neurodegeneration SP - 51 VL - 15 IS - 1 AB - 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 are unclear. While the RNA functions of TDP-43 have been widely investigated, its DNA binding roles remain unclear. However, recent studies have implicated a role for TDP-43 in the DNA damage response. SN - 1750-1326 UR - https://doi.org/10.1186/s13024-020-00386-4 DO - 10.1186/s13024-020-00386-4 ID - Konopka2020 ER -