Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

ABSTRACT: Cells rely heavily on microtubules for several processes, including cell division and molecular trafficking. Mutations in the different tubulin-α and -β proteins that comprise microtubules have been associated with various diseases and are often dominant, sporadic and congenital. While the earliest reported tubulin mutations affect neurodevelopment, mutations are also associated with other disorders such as bleeding disorders and infertility. We performed a systematic survey of tubulin mutations across all isotypes in order to improve our understanding of how they cause disease, and increase our ability to predict their phenotypic effects. Both protein structural analyses and computational variant effect predictors were very limited in their utility for differentiating between pathogenic a

SUBMITTER: Attard TJ 

PROVIDER: S-EPMC9581425 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature