Associated Papers
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.
Mollica A et al.
Nature Communications, 2025
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.
Janakiraman V et al.
Journal of Molecular Modeling, 2023
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Shah YB et al.
British Journal of Haematology, 2023
Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.
Chun Fang G et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Watanabe K et al.
Journal of Human Genetics, 2021
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Sferra A et al.
International Journal of Molecular Sciences, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Isrie M et al.
American Journal of Human Genetics, 2015
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