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Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. REFERENCES , , , , , , , & (2018). Vps13D encodes a ubiquitin-binding protein that is required for the regulation of mitochondrial size and clearance. Current Biology, 28(2), 287–295 e286. https://doi.org/10.1016/j.cub.2017.11.064 , , & (2012). The autosomal recessive cerebellar ataxias. New England Journal of Medicine, 366(7), 636–646. https://doi.org/10.1056/NEJMra1006610 , , , , , , , , & (2018).
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. REFERENCES , , , , , , , & (2018). Vps13D encodes a ubiquitin-binding protein that is required for the regulation of mitochondrial size and clearance. Current Biology, 28(2), 287–295 e286. https://doi.org/10.1016/j.cub.2017.11.064 , , & (2012). The autosomal recessive cerebellar ataxias. New England Journal of Medicine, 366(7), 636–646. https://doi.org/10.1056/NEJMra1006610 , , , , , , , , & (2018).
ACO2 deficiency increases vulnerability to Parkinson’s disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes | Communications Biology
Abstract Parkinson’s disease (PD) is characterized by α-synuclein aggregation in dopaminergic (DA) neurons, which are sensitive to oxidative stress. Mitochondria aconitase 2 (ACO2) is an essential enzyme in the tricarboxylic acid cycle that orchestrates mitochondrial and autophagic functions to energy metabolism. Though widely linked to diseases, its relation to PD has not been fully clarified.
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