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
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
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
When transporters fail to be transported: how to rescue folding-deficient SLC6 transporters.
Sucic S et al.
Journal of Neurology & Neuromedicine, 2016
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).
Arribas-González E et al.
Plos One, 2013
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
The role of amino acid transporters in inherited and acquired diseases.
Bröer S et al.
The Biochemical Journal, 2011
The glycinergic system in human startle disease: a genetic screening approach.
Davies JS et al.
Frontiers in Molecular Neuroscience, 2010
Glycine transporter dimers: evidence for occurrence in the plasma membrane.
Bartholomäus I et al.
The Journal of Biological Chemistry, 2008
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI et al.
Nature Genetics, 2006
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