Associated Papers
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.
Fischer FP et al.
Frontiers in Molecular Biosciences, 2022
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
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B et al.
Neurochemistry International, 2019
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
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