ArticleAmerican journal of human genetics2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 64 citations in OpenAlex.
- Mutation of Tubgcp6 induces hematopoietic stem and progenitor cell exhaustion in zebrafish.Communications biology · 2026Article
- The γ-TuRC: mastermind of multipurpose actions at the centrosome.Cellular and molecular life sciences : CMLS · 2026Review
- Multi-omics analysis highlights the link of aging-related cognitive decline with systemic inflammation and alterations of tissue-maintenance.bioRxiv : the preprint server for biology · 2025Article
- Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.Molecular neurobiology · 2024Article
- Network-based analysis predicts interacting genetic modifiers from a meta-mapping study of spike-wave discharge in mice.Genes, brain, and behavior · 2024Article
- Prediction of anti-microtubular target proteins of tubulins and their interacting proteins using Gene Ontology tools.Journal, genetic engineering & biotechnology · 2023Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Deciphering the RNA-binding protein interaction with the mRNAs encoded from human chromosome 15q11.2 BP1-BP2 microdeletion region.Functional & integrative genomics · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- Bi-Allelic c.1746G>T; p.Leu582= Variants inMolecular syndromology · 2022Article
- Clinical Significance of TUBGCP4 Expression in Hepatocellular Carcinoma.Analytical cellular pathology (Amsterdam) · 2022Article
- Overexpression of the PLK4 Gene as a Novel Strategy for the Treatment of Autosomal Recessive Microcephaly by Improving Centrosomal Dysfunction.Journal of molecular neuroscience : MN · 2021Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Sub-centrosomal mapping identifies augmin-γTuRC as part of a centriole-stabilizing scaffold.Nature communications · 2021Article
- Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene.Translational vision science & technology · 2021Article
- Autosomal recessive variants iniScience · 2021Article
- On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Review
- Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.Investigative ophthalmology & visual science · 2020Article
- Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.EMBO molecular medicine · 2020Article
- Transcriptome analysis of the zebrafishFASEB bioAdvances · 2020Article
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 3 countries.
Funding
Abstract
We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. TUBGCP4 encodes γ-tubulin complex protein 4, a component belonging to the γ-tubulin ring complex (γ-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the γ-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against tubgcp4 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of TUBGCP4 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the γ-TuRC in brain and eye development.
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