Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/138901
Title: PHENOTYPIC AND MOLECULAR FEATURES UNDERLYING MOTOR NEURON DEGENERATION IN SBMA IDENTIFIED THROUGH THE USE OF PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS
Authors: MARIANNE SHEILA D/O SURIAKUMARAN
Keywords: SBMA, iPS cells, motor neurons
Issue Date: 25-Aug-2017
Citation: MARIANNE SHEILA D/O SURIAKUMARAN (2017-08-25). PHENOTYPIC AND MOLECULAR FEATURES UNDERLYING MOTOR NEURON DEGENERATION IN SBMA IDENTIFIED THROUGH THE USE OF PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS. ScholarBank@NUS Repository.
Abstract: Spinal bulbar muscular atrophy (SBMA) is an X-linked recessive neuromuscular disorder characterized by the selective degeneration of lower motor neurons within the spinal cord and brainstem. SBMA results from the abnormal expansion of the CAG repeat in exon 1 of the androgen receptor (AR) gene. Although there is widespread expression of the AR in various tissues and organs, the exact mechanism of selective motor neuron loss within the spinal cord and brain stem remains elusive. To better understand the pathophysiology of SBMA and the dysregulation in the genomic network, our research in SBMA is focused on two main areas: (1) modelling the selective death of motor neurons in SBMA using patient-derived iPS cells which are induced to differentiate into motor neurons (2) adopt a transcriptomic approach in identifying candidate genes that may be involved in motor neuron degeneration via wide- scale genomic screen platforms such as microarray gene expression analysis.
URI: http://scholarbank.nus.edu.sg/handle/10635/138901
Appears in Collections:Ph.D Theses (Open)

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