Cargando…

Functional analysis of Na(+)/H(+) exchanger 9 variants identified in patients with autism and epilepsy

Na(+)/H(+) exchanger isoform 9, NHE9, finely tunes the pH within the endosomal lumen to regulate cargo trafficking and turnover. In patients with autism, genetic approaches have revealed deletions, truncations and missense mutations in the gene encoding NHE9 (SLC9A9). To help establish causality, fu...

Descripción completa

Detalles Bibliográficos
Autores principales: Prasad, Hari, Osei-Owusu, James, Rao, Rajini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555647/
https://www.ncbi.nlm.nih.gov/pubmed/28815171

Ejemplares similares