Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies

Christianson syndrome (CS), an X-linked neurological disorder characterized by postnatal attenuation of brain growth (postnatal microcephaly), is caused by mutations in SLC9A6 (also termed NHE6), the gene encoding endosomal Na(+)/H(+) exchanger 6 (NHE6). To hasten treatment development, we establish...

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Detaylı Bibliyografya
Yayımlandı:Sci Transl Med
Asıl Yazarlar: Lizarraga, Sofia B., Ma, Li, Maguire, Abbie M., van Dyck, Laura I., Wu, Qing, Ouyang, Qing, Kavanaugh, Brian C., Nagda, Dipal, Livi, Liane L., Pescosolido, Matthew F., Schmidt, Michael, Alabi, Shanique, Cowen, Mara H., Brito-Vargas, Paul, Hoffman-Kim, Diane, Uzun, Ece D. Gamsiz, Schlessinger, Avner, Jones, Richard N., Morrow, Eric M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2021
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7888381/
https://ncbi.nlm.nih.gov/pubmed/33568516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aaw0682
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