Associated Papers
Startle Disease: New Molecular Insights into an Old Neurological Disorder.
Schaefer N et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023
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
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Becher N et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2020
The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.
Kitzenmaier A et al.
The European Journal of Neuroscience, 2019
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
Impaired Glycine Receptor Trafficking in Neurological Diseases.
Schaefer N et al.
Frontiers in Molecular Neuroscience, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Thomas RH et al.
Brain : a Journal of Neurology, 2013
Na+/K+-ATPase is a new interacting partner for the neuronal glycine transporter GlyT2 that downregulates its expression in vitro and in vivo.
de Juan-Sanz J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
Giménez C et al.
The Journal of Biological Chemistry, 2012
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