ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import

UBQLN2 mutations cause amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD), but the pathogenic mechanisms by which they cause disease remain unclear. Proteomic profiling identified ‘mitochondrial proteins’ as comprising the largest category of protein changes in the spinal cord (S...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Lin, Brian C, Phung, Trong H, Higgins, Nicole R, Greenslade, Jessie E, Prado, Miguel A, Finley, Daniel, Karbowski, Mariusz, Polster, Brian M, Monteiro, Mervyn J
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8212775/
https://ncbi.nlm.nih.gov/pubmed/33891006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab116
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