Ontology highlight
ABSTRACT:
SUBMITTER: Shashi V
PROVIDER: S-EPMC6276871 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
The EMBO journal 20181112 23
A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylation was first linked to neurodegeneration in the <i>Purkinje cell degeneration</i> (<i>pcd</i>) mouse, which lacks deglutamylase CCP1, displays massive cerebellar atrophy, and accumulates abnormally glutamylated tubulin in degenerating neurons. We found biallelic rare and damaging variants in the gene encoding ...[more]