Publications by authors named "Marianne Sheila"
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of polyglutamine region in the androgen receptor. To gain insights into mechanisms of SBMA, four wild-type and five SBMA iPSC lines were differentiated to spinal motor neurons (sMNs) with high efficiency. SBMA sMNs showed neurite defects, reduced sMN survival and decreased protein synthesis levels.
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- - Spinal and bulbar muscular atrophy (SBMA) is caused by an expansion of CAG repeats in the Androgen Receptor gene (AR), leading to neurodegeneration.
- - Researchers created induced pluripotent stem cell (iPSC) lines from two SBMA patients and their healthy siblings, which maintain the AR CAG repeat count and show key pluripotency markers.
- - These iPSC lines are free of viral genetic material and have normal chromosome structures, making them valuable for studying the mechanisms behind SBMA.