Associated Papers
Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
Bagabir HA et al.
Pakistan Journal of Medical Sciences, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Joshi M et al.
Cold Spring Harbor Molecular Case Studies, 2016
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Choquet K et al.
Brain : a Journal of Neurology, 2016
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Yoon G et al.
Brain : a Journal of Neurology, 2016
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK et al.
Brain : a Journal of Neurology, 2015
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