Ontology highlight
ABSTRACT:
SUBMITTER: Arribat Y
PROVIDER: S-EPMC6877328 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Arribat Yoan Y Mysiak Karolina S KS Lescouzères Léa L Boizot Alexia A Ruiz Maxime M Rossel Mireille M Bomont Pascale P
The Journal of clinical investigation 20191201 12
Growing evidence shows that alterations occurring at early developmental stages contribute to symptoms manifested in adulthood in the setting of neurodegenerative diseases. Here, we studied the molecular mechanisms causing giant axonal neuropathy (GAN), a severe neurodegenerative disease due to loss-of-function of the gigaxonin-E3 ligase. We showed that gigaxonin governs Sonic Hedgehog (Shh) induction, the developmental pathway patterning the dorso-ventral axis of the neural tube and muscles, by ...[more]