Original paper
AlteredGPM6A/M6Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human andDrosophila
Abstract
Glycoprotein M6A (GPM6A) is a neuronal transmembrane protein of the PLP/DM20 (proteolipid protein) family that associates with cholesterol-rich lipid rafts and promotes filopodia formation. We identified a de novo duplication of the GPM6A gene in a patient with learning disability and behavioral anomalies. Expression analysis in blood lymphocytes showed increased GPM6A levels. An increase of patient-derived lymphoblastoid cells carrying membrane...
Paper Details
Title
AlteredGPM6A/M6Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human andDrosophila
Published Date
Nov 24, 2014
Journal
Volume
35
Issue
12
Pages
1495 - 1505
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Notes
History