A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

Hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although rare, this orphan disorder can have serious consequences, including sudden infant death. Dominant and recessive mutations in...

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Detalhes bibliográficos
Main Authors: Giménez, Cecilio, Pérez-Siles, Gonzalo, Martínez-Villarreal, Jaime, Arribas-González, Esther, Jiménez, Esperanza, Núñez, Enrique, de Juan-Sanz, Jaime, Fernández-Sánchez, Enrique, García-Tardón, Noemí, Ibáñez, Ignacio, Romanelli, Valeria, Nevado, Julián, James, Victoria M., Topf, Maya, Chung, Seo-Kyung, Thomas, Rhys H., Desviat, Lourdes R., Aragón, Carmen, Zafra, Francisco, Rees, Mark I., Lapunzina, Pablo, Harvey, Robert J., López-Corcuera, Beatriz
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436537/
https://ncbi.nlm.nih.gov/pubmed/22753417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.319244
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