HSØ Human iPS cells for studying disease mechanisms in spinocerebellar ataxia
The use of patient-derived induced pluripotent stem (iPS) cells represents a breakthrough in elucidating the pathophysiology of relatively rare genetic neurological diseases (Dimos et al 2008). The general aim of this project is to produce an in vitro platform to study cellular and intercellular mechanisms underlying disease processes associated with hereditary spinocerebellar ataxia (SCA). This class of degenerative neurological diseases is heterogeneous and still poorly characterized with respect to disease mechanisms, particularly at the cellular level. The project will use the recently developed iPS cell technology to generate human neurons from skin fibroblasts obtained from members of Norwegian families that carry an autosomal dominant allele for SCA-14, a type of SCA that involves a single nucleotide substitution missense mutation in the gene for protein kinase C gamma (PKCG). PKCG is a pivotal regulator of intracellular signaling pathways, and mutations in PKCG have deleterious effects on cerebellar function. The project will involve the characterization of intracellular calcium signaling, apoptotic susceptability, and synaptic signaling of SCA-14 iPS-derived neurons in vitro and in vivo in xenotypic animal models.
- UiO er forskningsansvarlig
- Lagret: Room 2268
- Biobanknummer: 511200-003
- Ansvarlig: Joel Glover
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Tidspunkt for anonymisering og sletting av dataene
- Anonymisering: mars 2012
- Sletting: juli 2027