Article
Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD.
Autophagy - 2 Jul 2016
Goode Alice, Butler Kevin, Long Jed, Cavey James, Scott Daniel, Shaw Barry, Sollenberger Jill, Gell Christopher, Johansen Terje, Oldham Neil J, Searle Mark S, Layfield Robert
Abstract excerpt
Growing evidence implicates impairment of autophagy as a candidate pathogenic mechanism in the spectrum of neurodegenerative disorders which includes amyotrophic lateral sclerosis and frontotemporal lobar degeneration (ALS-FTLD). SQSTM1, which encodes the autophagy receptor SQSTM1/p62, is genetically associated with ALS-FTLD, although to date autophagy-relevant functional defects in disease-associated variants...
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