ArticleAmerican journal of human genetics2017
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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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
36 citing papers in PubMed, 56 citations in OpenAlex.
- When the Cytoskeleton Fails: Primary Structural Defects Underlying Disorders with Neurological Involvement.International journal of molecular sciences · 2026Review
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- A spatial and temporal atlas of tubulin isotype expression during neural crest EMT.bioRxiv : the preprint server for biology · 2026Article
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026Review
- Article
- The Identification of Proteolytic Substrates of Calpain-5 with N-Terminomics.International journal of molecular sciences · 2025Article
- Article
- Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.European journal of human genetics : EJHG · 2025Article
- A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.Molecular genetics & genomic medicine · 2025Article
- The first Chinese case with LCAEOD syndrome caused by mutation ofInternational journal of ophthalmology · 2025Article
- Case Report: Proteomic analysis of cerebrospinal fluid in a retinoblastoma patient.Frontiers in oncology · 2025Article
- A mutational hotspot inFrontiers in cellular neuroscience · 2025Article
- Cortical morphometric similarity patterns and molecular signatures across ischemic stroke recovery.Frontiers in neurology · 2025Article
- Mutation of beta-tubulin 4B gene (Molecular vision · 2025Article
- Vitamin B5 is a context-dependent dietary regulator of nociception.G3 (Bethesda, Md.) · 2024Article
- TUBB4B is essential for the cytoskeletal architecture of cochlear supporting cells and motile cilia development.Communications biology · 2024Article
- TUBB4B is essential for the expansion of differentiating spermatogonia.Scientific reports · 2024Article
- Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.Scientific reports · 2024Observational
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Science (New York, N.Y.) · 2024Article
Corrections and comments
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Authors and funding
24 authors at 11 institutions in 4 countries.
Funding
Abstract
Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the β-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αβ-heterodimer, consistent with a role in maintaining MT stability. Functional analysis in cultured cells overexpressing FLAG-tagged wild-type or mutant TUBB4B as well as in primary skin-derived fibroblasts showed that the mutant TUBB4B is able to fold, form αβ-heterodimers, and co-assemble into the endogenous MT lattice. However, the dynamics of growing MTs were consistently altered, showing that the mutations have a significant dampening impact on normal MT growth. Our findings provide a link between sensorineural disease and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.