ArticleScientific reports2016
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.Neurogenetics · 2026Article
- VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.Movement disorders clinical practice · 2026Review
- Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.Cell death & disease · 2026Article
- Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias.Turkish archives of pediatrics · 2025Article
- Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.Annals of neurology · 2025Observational
- Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.Movement disorders clinical practice · 2025Article
- Engine breakdown of lysosomes and related organelles and the resulting physiology.Frontiers in cell and developmental biology · 2025Review
- Article
- Emerging Molecular-Genetic Families in Dystonia: Endosome-Autophagosome-Lysosome and Integrated Stress Response Pathways.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?International journal of molecular sciences · 2024Review
- A Novel Pattern of Dystonia in DYT-Neurology. Genetics · 2024Article
- HypomyelinatedInternational journal of molecular sciences · 2024Article
- Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.Movement disorders clinical practice · 2024Article
- Familial Mediterranean fever gene variations could triggerRheumatology advances in practice · 2024Article
- HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis.Scientific reports · 2023Article
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.Frontiers in genetics · 2023Article
- Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.Neurological research and practice · 2022Article
- HOPS-Associated Neurological Disorders: Lysosomal Dysfunction as an Emerging Concept Underlying Dystonia.Movement disorders clinical practice · 2022Article
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dystonia is a neurological movement disorder that is clinically and genetically heterogeneous. Herein, we report the identification a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C > A homozygous mutation of VPS16, we generated mice with targeted mutation site of Vps16 through CRISPR-Cas9 genome-editing approach. Vps16 c.156 C > A homozygous mutant mice exhibited significantly impaired motor function, suggesting that VPS16 is a new causative gene for adolescent-onset primary dystonia.
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