Associated Papers
A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.
Salmanian M et al.
Neurogenetics, 2025
Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease.
Lin J et al.
Frontiers in Neurology, 2024
Partial Inhibition of Calcineurin Activity by Rcn2 as a Potential Remedy for Vps13 Deficiency.
Wardaszka P et al.
International Journal of Molecular Sciences, 2021
The binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro.
Kolakowski D et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.
Dziurdzik SK et al.
Human Molecular Genetics, 2020
Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis.
Soczewka P et al.
Disease Models & Mechanisms, 2019
Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.
Rzepnikowska W et al.
Human Molecular Genetics, 2017
Primary skeletal muscle involvement in chorea-acanthocytosis.
Saiki S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
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