Article
Clearance of the mutant androgen receptor in motoneuronal models of spinal and bulbar muscular atrophy.
Neurobiology of aging - 1 Nov 2013
Rusmini Paola, Crippa Valeria, Giorgetti Elisa, Boncoraglio Alessandra, Cristofani Riccardo, Carra Serena, Poletti Angelo
Abstract excerpt
Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease caused by an abnormal expansion of a tandem CAG repeat in exon 1 of the androgen receptor (AR) gene that results in an abnormally long polyglutamine tract (polyQ) in the AR protein. As a result, the mutant AR (ARpolyQ) misfolds, forming cytoplasmic and nuclear aggregates in the affected neurons. Neurotoxicity only appears to be associated...
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