The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.

ABSTRACT: Heterozygous, missense mutations in both α- and β-tubulin genes have been linked to an array of neurodevelopment disorders, commonly referred to as "tubulinopathies." To date, tubulinopathy mutations have been identified in three β-tubulin isotypes and one α-tubulin isotype. These mutations occur throughout the different genetic domains and protein structures of these tubulin isotypes, and the field is working to address how this molecular-level diversity results in different cellular and tissue-level pathologies. Studies from many groups have focused on elucidating the consequences of individual mutations; however, the field lacks comprehensive models for the molecular etiology of different types of tubulinopathies, presenting a major gap in diagnosis and treatment. This review highlights

SUBMITTER: Hoff KJ 

PROVIDER: S-EPMC9666403 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature