Down-Regulation of miRNA-708 Promotes Aberrant Calcium Signaling by Targeting Neuronatin in a Mouse Model of Angelman Syndrome.

ABSTRACT: The expression of ubiquitin ligase UBE3A is paternally imprinted in neurons and loss of function of maternally inherited UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe intellectual disability and motor disturbances. Over activation of UBE3A is also linked with autism. Mice deficient for maternal Ube3a (AS mice) exhibit various behavioral features of AS including cognitive and motor deficits although the underlying molecular mechanism is poorly understood. Here, we investigated possible involvement of miRNA in AS pathogenesis and identified miR-708 as one of the down-regulated miRNA in the brain of AS mice. This miR-708 targets endoplasmic reticulum resident protein neuronatin (a developmentally regulated protein in the brain) leadin

SUBMITTER: Vatsa N 

PROVIDER: S-EPMC6381399 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature