Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis

Dominant mutations in the RNA/DNA-binding protein TDP-43 have been linked to amyotrophic lateral sclerosis (ALS). Here, we screened genomic DNA extracted from spinal cord specimens of sporadic ALS patients for mutations in the TARDBP gene and identified a patient specimen with previously reported Q3...

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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: Guerrero, Erika N, Mitra, Joy, Wang, Haibo, Rangaswamy, Suganya, Hegde, Pavana M, Basu, Priyadarshini, Rao, K S, Hegde, Muralidhar L
Format: Artigo
Language:Inglês
Published: Oxford University Press 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6659010/
https://ncbi.nlm.nih.gov/pubmed/31067307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz062
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