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Mitochondrial quality control gene expression in peripheral blood mononuclear cells of SCA12 patients.
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ID: paper-41691974
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Mitochondrial quality control gene expression in peripheral blood mononuclear cells of SCA12 patients.
Ansari S, Rungta J, Banerjee R, Sengupta S, Biswas B, Pal R, Dey S, Chattarji S, Ganguly J, Choudhury S, Kumar H
Abstract
BACKGROUND: Spinocerebellar ataxia type 12 (SCA12) is a late-onset, autosomal dominant neurodegenerative disorder linked to a CAG repeat expansion mutation in the PPP2R2B gene and prevalent in Indian Agarwal ancestry. The pathophysiology of SCA12 and its clinical relevance need further elucidation. Dysregulation of mitochondrial quality control (mitochondrial QC), a critical determinant of neurodegeneration, could play a central role in SCA12 pathogenesis. OBJECTIVES: In this study, 20 candidate...
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