ArticleAmerican journal of human genetics2011
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 72 citations in OpenAlex.
- How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review.Brain sciences · 2026Article
- Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs.Journal of anatomy · 2026Article
- Machine Learning-Based Classification of Gliomas and Tumor Grades with SHAP-Guided Feature Interpretation.Genes · 2026Article
- Human mood disorder risk gene Synaptotagmin-14 contributes to mania-like behaviors in mice.Molecular psychiatry · 2025Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.Brain communications · 2022Article
- Potential roles of synaptotagmin family members in cancers: Recent advances and prospects.Frontiers in medicine · 2022Review
- Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder.International journal of molecular sciences · 2021Article
- A genome-wide association study of the frailty index highlights brain pathways in ageing.Aging cell · 2021Article
- Function of Drosophila Synaptotagmins in membrane trafficking at synapses.Cellular and molecular life sciences : CMLS · 2021Review
- Genetics and the Individualized Therapy of Vestibular Disorders.Frontiers in neurology · 2021Review
- Identification of novel susceptibility loci for non-syndromic cleft lip with or without cleft palate.Journal of cellular and molecular medicine · 2020Article
- Intra-locked G-quadruplex structures formed by irregular DNA G-rich motifs.Nucleic acids research · 2020Article
- Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy.Frontiers in integrative neuroscience · 2020Article
- Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.Journal of inherited metabolic disease · 2018Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- Kenyon Cell Subtypes/Populations in the Honeybee Mushroom Bodies: Possible Function Based on Their Gene Expression Profiles, Differentiation, Possible Evolution, and Application of Genome Editing.Frontiers in psychology · 2018Review
- Systematic review of autosomal recessive ataxias and proposal for a classification.Cerebellum & ataxias · 2017Review
- Article
- De novo point mutations in patients diagnosed with ataxic cerebral palsy.Brain : a journal of neurology · 2015Article
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Authors and funding
19 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal-recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous disorders associated with diverse neurological and nonneurological features that occur before the age of 20. Currently, mutations in more than 20 genes have been identified, but approximately half of the ARCA patients remain genetically unresolved. In this report, we describe a Japanese family in which two siblings have slow progression of a type of ARCA with psychomotor retardation. Using whole-exome sequencing combined with homozygosity mapping, we identified a homozygous missense mutation in SYT14, encoding synaptotagmin XIV (SYT14). Expression analysis of the mRNA of SYT14 by a TaqMan assay confirmed that SYT14 mRNA was highly expressed in human fetal and adult brain tissue as well as in the mouse brain (especially in the cerebellum). In an in vitro overexpression system, the mutant SYT14 showed intracellular localization different from that of the wild-type. An immunohistochemical analysis clearly showed that SYT14 is specifically localized to Purkinje cells of the cerebellum in humans and mice. Synaptotagmins are associated with exocytosis of secretory vesicles (including synaptic vesicles), indicating that the alteration of the membrane-trafficking machinery by the SYT14 mutation may represent a distinct pathomechanism associated with human neurodegenerative disorders.
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