A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death

BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. The patients have pronounced limitations in cognitive ability, motor skills and adaptiv...

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Detalles Bibliográficos
Autores principales: Ilie, Alina, Gao, Andy Y. L., Reid, Jonathan, Boucher, Annie, McEwan, Cassandra, Barrière, Hervé, Lukacs, Gergely L., McKinney, R. Anne, Orlowski, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010692/
https://www.ncbi.nlm.nih.gov/pubmed/27590723
http://dx.doi.org/10.1186/s13024-016-0129-9

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