Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders

SLC39A8 encodes ZIP8, a divalent metal ion transporter. Mutations in the SLC39A8 gene are associated with congenital disorder of glycosylation type II and Leigh syndrome. Notably, affected patients with both disorders exhibited severe manganese (Mn) deficiency. The cellular function of human SLC39A8...

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Detalles Bibliográficos
Autores principales: Choi, Eun-Kyung, Nguyen, Trang-Tiffany, Gupta, Neil, Iwase, Shigeki, Seo, Young Ah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816659/
https://www.ncbi.nlm.nih.gov/pubmed/29453449
http://dx.doi.org/10.1038/s41598-018-21464-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816659/
https://www.ncbi.nlm.nih.gov/pubmed/29453449
http://dx.doi.org/10.1038/s41598-018-21464-0

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