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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B et al.
Neurochemistry International, 2019
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
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
The role of amino acid transporters in inherited and acquired diseases.
Bröer S et al.
The Biochemical Journal, 2011
A critical role for glycine transporters in hyperexcitability disorders.
Harvey RJ et al.
Frontiers in Molecular Neuroscience, 2008
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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