Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

James, V.M., Gill, J.L., Topf, M. and Harvey, R.J. (2012) Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease. Biological Chemistry, 393 (4). pp. 283-289. 10.1515/bc-2011-232.

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DOI: 10.1515/bc-2011-232


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.

Item Type:Article
Uncontrolled Keywords:glycine transporters; GlyR; GlyT2; hyperekplexia; startle disease
Departments, units and centres:Department of Pharmacology > Department of Pharmacology
ID Code:3170
Journal or Publication Title:Biological Chemistry
Deposited By:Library Staff
Deposited On:04 May 2012 15:02
Last Modified:04 May 2012 15:02

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