Associated Papers
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS et al.
Cold Spring Harbor Molecular Case Studies, 2019
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B et al.
Neurochemistry International, 2019
Molecular Determinants for Substrate Interactions with the Glycine Transporter GlyT2.
Carland JE et al.
Acs Chemical Neuroscience, 2018
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E et al.
The Journal of Biological Chemistry, 2012
Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.
James VM et al.
Biological Chemistry, 2012
An aspartate residue in the external vestibule of GLYT2 (glycine transporter 2) controls cation access and transport coupling.
Pérez-Siles G et al.
The Biochemical Journal, 2012
A critical role for glycine transporters in hyperexcitability disorders.
Harvey RJ et al.
Frontiers in Molecular Neuroscience, 2008
Molecular basis for substrate discrimination by glycine transporters.
Vandenberg RJ et al.
The Journal of Biological Chemistry, 2007
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI et al.
Nature Genetics, 2006
[Molecular bases of hereditary hyperekplexia].
Giménez C et al.
Revista De Neurologia, 0
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