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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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| Pubblicato in: | eNeuro |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Society for Neuroscience
2019
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| Soggetti: | |
| Accesso online: | 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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