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Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease
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Published/Copyright:
April 1, 2012
Abstract
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.
Received: 2011-10-22
Accepted: 2011-11-17
Published Online: 2012-04-01
Published in Print: 2012-04-01
©2012 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Editorial
- Highlight: GBM Meeting ‘Molecular Life Sciences 2011’
- Highlight: GBM Meeting ‘Molecular Life Sciences 2011’
- Structural models of the human copper P-type ATPases ATP7A and ATP7B
- The proteasome: molecular machinery and pathophysiological roles
- At the cutting edge: applications and perspectives of laser nanosurgery in cell biology
- N-glycoproteomics: mass spectrometry-based glycosylation site annotation
- Disorder-function relationships for the cell cycle regulatory proteins p21 and p27
- Regional susceptibilities to mitochondrial dysfunctions in the CNS
- Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease
- N-terminal acetylation and other functions of Nα-acetyltransferases
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