Article
ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import.
Human molecular genetics - 17 Jun 2021
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
Abstract excerpt
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 (SC) of the P497S UBQLN2 mouse model of ALS/FTD. Immunoblots confirmed P497S animals have global changes in proteins...
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