ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 34 citations in OpenAlex.
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- Emerging roles for tubulin PTMs in neuronal function and neurodegenerative disease.Current opinion in neurobiology · 2025Review
- Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.Aging cell · 2025Article
- Microtubule-binding protein MAP1B regulates interstitial axon branching of cortical neurons via the tubulin tyrosination cycle.The EMBO journal · 2024Article
- Causal effect of gut microbiota on pancreatic cancer: A Mendelian randomization and colocalization study.Journal of cellular and molecular medicine · 2024Article
- Role of tubulin post-translational modifications in peripheral neuropathy.Experimental neurology · 2023Review
- Bioinformatics Analysis of Next Generation Sequencing Data Identifies Molecular Biomarkers Associated With Type 2 Diabetes Mellitus.Clinical medicine insights. Endocrinology and diabetes · 2023Article
- Tubulin tyrosination regulates synaptic function and is disrupted in Alzheimer's disease.Brain : a journal of neurology · 2022Article
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- Tubulin post-translational modifications control neuronal development and functions.Developmental neurobiology · 2021Review
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- The tubulin code and its role in controlling microtubule properties and functions.Nature reviews. Molecular cell biology · 2020Review
- Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.Human molecular genetics · 2019Article
- Structural basis of tubulin detyrosination by vasohibins.Nature structural & molecular biology · 2019Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIdentifying and characterizing novel causes of autosomal recessive intellectual disability based on systematic clinical and genetic evaluation, followed by functional experiments.
methodsClinical examinations, genome-wide positional mapping, and sequencing were followed by quantitative polymerase chain reaction and western blot of the protein SVBP and its interaction partners. We then knocked down the gene in rat primary hippocampal neurons and evaluated the consequences on synapses.
resultsWe identified a founder, homozygous stop-gain variant in SVBP (c.82C>T; p.[Gln28*]) in four affected individuals from two independent families with intellectual disability, microcephaly, ataxia, and muscular hypotonia. SVBP encodes a small chaperone protein that transports and stabilizes two angiogenesis regulators, VASH1 and VASH2. The altered protein is unstable and nonfunctional since transfected HeLa cells with mutant SVBP did not reveal evidence for immunoreactive SVBP protein fragments and cotransfection with VASH1 showed a severe reduction of VASH1 in medium and cell lysate. Knocking down Svbp in rat primary hippocampal neurons led to a significant decrease in the number of excitatory synapses.
conclusionSVBP is not only involved in angiogenesis, but also has vital functions in the central nervous system. Biallelic loss-of-function variants in SVBP lead to intellectual disability.
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