Associated Papers
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
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
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
A critical role for glycine transporters in hyperexcitability disorders.
Harvey RJ et al.
Frontiers in Molecular Neuroscience, 2008
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
Eulenburg V et al.
Biochemical and Biophysical Research Communications, 2006
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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