Ontology highlight
ABSTRACT:
SUBMITTER: Rocchi A
PROVIDER: S-EPMC4911374 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Rocchi Anna A Milioto Carmelo C Parodi Sara S Armirotti Andrea A Borgia Doriana D Pellegrini Matteo M Urciuolo Anna A Molon Sibilla S Morbidoni Valeria V Marabita Manuela M Romanello Vanina V Gatto Pamela P Blaauw Bert B Bonaldo Paolo P Sambataro Fabio F Robins Diane M DM Lieberman Andrew P AP Sorarù Gianni G Vergani Lodovica L Sandri Marco M Pennuto Maria M
Acta neuropathologica 20160312 1
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The mechanism by which expansion of polyglutamine in AR causes muscle atrophy is unknown. Here, we investigated pathological pathways underlying muscle atrophy in SBMA knock-in mice and patients. We show that glycolytic muscles were more severely affected than oxidative muscles in SBMA knock-in mice. Muscle atrophy was associated with early-onset, p ...[more]