Associated Papers
Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.
Cuinat S et al.
Movement Disorders Clinical Practice, 2025
40443206 (PubMed )
Supplement: MDC3-12-1668-s002.xlsx › Feuil1
Loss of PIKfyve in Rod Photoreceptors and RPE Cells Leads to Endolysosomal Dysfunction and Retinal Degeneration.
Rajala A et al.
Biorxiv : the Preprint Server for Biology, 2025
VAC14 oligomerization is essential for the function of the FAB1/PIKfyve-VAC14-FIG4 complex.
Zhang L et al.
Molecular Biology of the Cell, 2025
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Beauregard-Lacroix É et al.
Genetics in Medicine Open, 2024
39669591 (PubMed )
Supplement: mmc3.xlsx › Feuil1
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
Kaur P et al.
Journal of Human Genetics, 2019
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