The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia-Reference-Cited by-同舟云学术

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The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia

Published:2019-09-05 Issue:12 Volume:50 Page:3906-3920
ISSN:0953-816X
Container-title:European Journal of Neuroscience
language:en
Short-container-title:Eur J Neurosci

Author:

Kitzenmaier Alexandra¹,Schaefer Natascha¹,Kasaragod Vikram Babu²,Polster Tilman³,Hantschmann Ralph⁴,Schindelin Hermann²,Villmann Carmen¹^ORCID

Affiliation:

1. Institute for Clinical Neurobiology Julius‐Maximilians‐University of Würzburg Würzburg Germany

2. Rudolf Virchow Centre for Experimental Biomedicine Julius‐Maximilians‐University of Würzburg Würzburg Germany

3. Pediatric Epileptology Mara Hospital Bethel Epilepsy Centre Bielefeld Germany

4. Center for Developmental Pediatrics and Pediatric Neurology Hagen Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ejn.14533

Reference43 articles.

1. STARTLE DISEASE OR HYPEREKPLEXIA FURTHER DELINEATION OF THE SYNDROME

2. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

3. Calnexin-Assisted Biogenesis of the Neuronal Glycine Transporter 2 (GlyT2)

4. Molecular Basis of the Dominant Negative Effect of a Glycine Transporter 2 Mutation Associated with Hyperekplexia

5. Glycine Transporter Dimers

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1. Startle Disease: New Molecular Insights into an Old Neurological Disorder;The Neuroscientist;2022-06-25

2. Structural Rearrangement of the Serotonin Transporter Intracellular Gate Induced by Thr276 Phosphorylation;ACS Chemical Neuroscience;2022-03-08

3. Synergistic Control of Transmitter Turnover at Glycinergic Synapses by GlyT1, GlyT2, and ASC-1;International Journal of Molecular Sciences;2022-02-25

4. Structural rearrangement of the intracellular gate of the serotonin transporter induced by Thr276 phosphorylation;2021-10-15

5. Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits;Pharmacology & Therapeutics;2021-06

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