Article
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
Proceedings of the National Academy of Sciences of the United States of America - 30 Jun 2020
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
Abstract excerpt
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 UBQLN2 patients and in a transgenic P497S UBQLN2 mouse model of ALS/FTD, suggesting a pathogenic link. Here, we show...
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