Associated Papers
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
de Mendonça RS et al.
Cerebellum (london, England), 2025
VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.
Liu WL et al.
Neurocase, 2025
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.
Dong Y et al.
American Journal of Medical Genetics. Part A, 2024
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Baker EK et al.
Molecular Genetics and Genomics : Mgg, 2023
In silico modeling human VPS13 proteins associated with donor and target membranes suggests lipid transfer mechanisms.
Dall'Armellina F et al.
Proteins, 2023
VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.
Öztop-Çakmak Ö et al.
Revue Neurologique, 2022
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.
Huang X et al.
World Journal of Clinical Cases, 2022
Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.
Shen JL et al.
Current Biology : Cb, 2021
Genetic Dissection of Vps13 Regulation in Yeast Using Disease Mutations from Human Orthologs.
Park JS et al.
International Journal of Molecular Sciences, 2021
VPS13D promotes peroxisome biogenesis.
Baldwin HA et al.
The Journal of Cell Biology, 2021
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E et al.
Annals of Neurology, 2018
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