Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model

Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function (LoF) mutations in SLC9A6 encoding the endosomal Na(+)/H(+) exchanger 6 (NHE6). CS presents with developmental delay, seizures, intellectual disability, nonverbal status, postnatal microcephaly, and ataxia. To define...

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Detalles Bibliográficos
Autores principales: Wu, Qing, Ma, Li, Joesch-Cohen, Lena, Schmidt, Michael, Uzun, Ece D. Gamsiz, Morrow, Eric M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695175/
https://www.ncbi.nlm.nih.gov/pubmed/37747131
http://dx.doi.org/10.1242/bio.059778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695175/
https://www.ncbi.nlm.nih.gov/pubmed/37747131
http://dx.doi.org/10.1242/bio.059778

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