Ontology highlight
ABSTRACT:
SUBMITTER: Lieberman AP
PROVIDER: S-EPMC4356525 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Lieberman Andrew P AP Yu Zhigang Z Murray Sue S Peralta Raechel R Low Audrey A Guo Shuling S Yu Xing Xian XX Cortes Constanza J CJ Bennett C Frank CF Monia Brett P BP La Spada Albert R AR Hung Gene G
Cell reports 20140416 3
Spinal and bulbar muscular atrophy (SBMA) is caused by the polyglutamine androgen receptor (polyQ-AR), a protein expressed by both lower motor neurons and skeletal muscle. Although viewed as a motor neuronopathy, data from patients and mouse models suggest that muscle contributes to disease pathogenesis. Here, we tested this hypothesis using AR113Q knockin and human bacterial artificial chromosome/clone (BAC) transgenic mice that express the full-length polyQ-AR and display androgen-dependent we ...[more]