Ontology highlight
ABSTRACT:
SUBMITTER: Barresi S
PROVIDER: S-EPMC3956665 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Barresi Sabina S Tomaselli Sara S Athanasiadis Alekos A Galeano Federica F Locatelli Franco F Bertini Enrico E Zanni Ginevra G Gallo Angela A
PloS one 20140317 3
Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar hypoplasia. ADAR enzymes are responsible for A-to-I RNA editing, an essential post-transcriptional RNA modification contributing to transcriptome and proteome diversification. Specifically, ADAR2 activity is essential for brain development and functi ...[more]