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...

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Vydáno v:eNeuro
Hlavní autoři: Ouyang, Qing, Joesch-Cohen, Lena, Mishra, Sasmita, Riaz, Hasib A., Schmidt, Michael, Morrow, Eric M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Society for Neuroscience 2019
Témata:
New Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6893231/
https://ncbi.nlm.nih.gov/pubmed/31676550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/ENEURO.0046-19.2019
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