A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2
C Giménez, G Pérez-Siles, J Martínez-Villarreal… - Journal of Biological …, 2012 - ASBMB
Hyperekplexia or startle disease is characterized by an exaggerated startle response,
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although
rare, this orphan disorder can have serious consequences, including sudden infant death.
Dominant and recessive mutations in the human glycine receptor (GlyR) α1 gene (GLRA1)
are the major cause of this disorder. However, recessive mutations in the presynaptic
Na+/Cl−-dependent glycine transporter GlyT2 gene (SLC6A5) are rapidly emerging as a …
evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although
rare, this orphan disorder can have serious consequences, including sudden infant death.
Dominant and recessive mutations in the human glycine receptor (GlyR) α1 gene (GLRA1)
are the major cause of this disorder. However, recessive mutations in the presynaptic
Na+/Cl−-dependent glycine transporter GlyT2 gene (SLC6A5) are rapidly emerging as a …
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