Ontology highlight
ABSTRACT:
SUBMITTER: Gupta M
PROVIDER: S-EPMC3656306 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Gupta Meghana M Kamynina Elena E Morley Samantha S Chung Stacey S Muakkassa Nora N Wang Hong H Brathwaite Shayna S Sharma Gaurav G Manor Danny D
The Journal of biological chemistry 20130409 20
Mutations in the PLEKHG4 (puratrophin-1) gene are associated with the heritable neurological disorder autosomal dominant spinocerebellar ataxia. However, the biochemical functions of this gene product have not been described. We report here that expression of Plekhg4 in the murine brain is developmentally regulated, with pronounced expression in the newborn midbrain and brainstem that wanes with age and maximal expression in the cerebellar Purkinje neurons in adulthood. We show that Plekhg4 is s ...[more]