ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

Mutations in UBQLN2 cause amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other neurodegenerations. However, the mechanism by which the UBQLN2 mutations cause disease remains unclear. Alterations in proteins involved in autophagy are prominent in neuronal tissue of human ALS...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Wu, Josephine J., Cai, Ashley, Greenslade, Jessie E., Higgins, Nicole R., Fan, Cong, Le, Nhat T. T., Tatman, Micaela, Whiteley, Alexandra M., Prado, Miguel A., Dieriks, Birger V., Curtis, Maurice A., Shaw, Christopher E., Siddique, Teepu, Faull, Richard L. M., Scotter, Emma L., Finley, Daniel, Monteiro, Mervyn J.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7334651/
https://ncbi.nlm.nih.gov/pubmed/32513711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1917371117
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