Article
Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.
Scientific reports - 10 May 2017
Bartolome Fernando, Esteras Noemi, Martin-Requero Angeles, Boutoleau-Bretonniere Claire, Vercelletto Martine, Gabelle Audrey, Le Ber Isabelle, Honda Tadashi, Dinkova-Kostova Albena T, Hardy John, Carro Eva, Abramov Andrey Y
Abstract excerpt
Abnormal mitochondrial function has been found in patients with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Mutations in the p62 gene (also known as SQSTM1) which encodes the p62 protein have been reported in both disorders supporting the idea of an ALS/FTD continuum. In this work the role of p62 in energy metabolism was studied in fibroblasts from FTD patients carrying two independent...
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