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Article

Analysis of peripheral amyloid precursor protein in Angelman Syndrome.

American journal of medical genetics. Part A - 1 Sept 2016

Erickson Craig A, Wink Logan K, Baindu Bayon, Ray Balmiki, Schaefer Tori L, Pedapati Ernest V, Lahiri Debomoy K

Abstract excerpt

Angelman Syndrome is a rare neurodevelopmental disorder associated with significant developmental and communication delays, high risk for epilepsy, motor dysfunction, and a characteristic behavioral profile. While Angelman Syndrome is known to be associated with the loss of maternal expression of the ubiquitin-protein ligase E3A gene, the molecular sequelae of this loss remain to be fully understood. Amyloid...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27327493
DOI: 10.1002/ajmg.a.37811

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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