Article
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
7 Aug 2020
Abstract excerpt
Recently, DNAJC7 was found to be associated with amyotrophic lateral sclerosis (ALS) in a single large-scale exome sequencing study.1 Multiple protein-truncating variants were detected in individuals with ALS that were absent in control subjects.1 DNAJC7 encodes a member of the DnaJ heat-shock protein family (HspP40), which functions in protein homeostasis, including protein folding and degradation.2 To validate...
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