Cargando…
Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant
Christianson syndrome (CS) is an X-linked neurogenetic disorder resulting from loss-of-function (LoF) mutations in SLC9A6, which encodes the endosomal Na(+)/H(+) exchanger 6 (NHE6). NHE6 regulates proton efflux from endosomes and, thus, participates in regulating cargo processing and trafficking. Lo...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Society for Neuroscience
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893231/ https://www.ncbi.nlm.nih.gov/pubmed/31676550 http://dx.doi.org/10.1523/ENEURO.0046-19.2019 |