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Characterise the molecular pathogenesis of androgen receptor spinal and bulbar muscular atrop (SBMA) causing repeat expansion mutations in human motor neurons generated from patient-specific spinal cord motor neurons from induced pluripotent stem cells and performed time-resolved analysis of transcr...
ORGANISM(S): Homo sapiens 
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s Disease, is a slowly progressive adult-onset neuromuscular disease which results from a polyglutamine (polyQ) encoding CAG repeat expansion within the androgen receptor gene (AR). Despite the ubiquitous expression of the androgen rec...
ORGANISM(S): Mus musculus 
Laser-captured motor neurons (LCM-MN) from spinal cord sections of AR100 SBMA mice and AR20 wild-type controls were isolated at presymptomatic (3 months), symptomatic (12 months), and late-stage (18 months) time points. RNA-seq profiling was performed using Illumina HiSeq paired-end sequencing to in...
ORGANISM(S): Mus musculus 
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