Transcriptional profiling of iPSC derived motor neurons from spinal and bulbar muscular atrophy patients at key stages motor neurogenesis
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 transcriptomes at key stages of motor neurogenesis.  4 Healthy Controls and 4 SBMA Patient samples analysed at 5 different developemntal stages: iPSCs (d0), post neural induction (d7), post patterning to the pMN domain (d14), post-mitotic but immature iPSC-MNs (d21) and 10 days post-mitotic iPSC-MNs (d28
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 transcriptomes at key stages of motor neurogenesis.  4 Healthy Controls and 4 SBMA Patient samples analysed at 5 different developemntal stages: iPSCs (d0), post neural induction (d7), post patterning to the pMN domain (d14), post-mitotic but immature iPSC-MNs (d21) and 10 days post-mitotic iPSC-MNs (d28