Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

OBJECTIVE: ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS: Using exome sequencing, we ident...

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Detalles Bibliográficos
Autores principales: Ahrens-Nicklas, Rebecca C., Umanah, George K.E., Sondheimer, Neal, Deardorff, Matthew A., Wilkens, Alisha B., Conlin, Laura K., Santani, Avni B., Nesbitt, Addie, Juulsola, Jane, Ma, Erica, Dawson, Ted M., Dawson, Valina L., Marsh, Eric D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289017/
https://www.ncbi.nlm.nih.gov/pubmed/28180185
http://dx.doi.org/10.1212/NXG.0000000000000130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289017/
https://www.ncbi.nlm.nih.gov/pubmed/28180185
http://dx.doi.org/10.1212/NXG.0000000000000130

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