Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

V M James; J L Gill; M Topf; Robert J Harvey

doi:10.1515/BC-2011-232

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Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

Journal article

Open access

Peer reviewed

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

V M James, J L Gill, M Topf and Robert J Harvey

Biological Chemistry, Vol.393(4), pp.283-289

2012

DOI: https://doi.org/10.1515/BC-2011-232

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Abstract

glycine transporters

GlyR

GlyT2

hyperekplexia

startle disease

Startle disease affects newborn children and involves an exaggerated startle response and muscle hypertonia in response to acoustic or tactile stimuli. The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1). However, mutations have also been discovered in the genes encoding the GlyR β subunit (GLRB) and the presynaptic glycine transporter GlyT2 (SLC6A5). GlyT2 mutations have also been detected in Belgian Blue cattle and Irish Wolfhounds, where they have significant economic and animal welfare impacts. © 2012 by Walter de Gruyter . Berlin . Boston.

Details

Title: Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease
Authors: V M James (Author) - University College London, United Kingdom
J L Gill (Author) - University College London, United Kingdom
M Topf (Author) - Birkbeck College, United Kingdom
Robert J Harvey (Author) - University College London, United Kingdom
Publication details: Biological Chemistry, Vol.393(4), pp.283-289
Publisher: Walter de Gruyter GmbH & Co. KG
Date published: 2012
DOI: 10.1515/BC-2011-232
ISSN: 1431-6730
Organisation Unit: School of Health; University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy; Centre for Bioinnovation; School of Health and Behavioural Sciences - Legacy
Language: English
Record Identifier: 99451208502621
Output Type: Journal article

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