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Article

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.

PloS one - 1 Jan 2015

Grier Mark D, Carson Robert P, Lagrange Andre Hollis

Abstract excerpt

Angelman Syndrome (AS) is a devastating neurodevelopmental disorder characterized by developmental delay, speech impairment, movement disorder, sleep disorders and refractory epilepsy. AS is caused by loss of the Ube3a protein encoded for by the imprinted Ube3a gene. Ube3a is expressed nearly exclusively from the maternal chromosome in mature neurons. While imprinting in neurons of the brain has been well...

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Identifiers

PMID: 25894543
DOI: 10.1371/journal.pone.0124649
PMCID: PMC4403805

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