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Article

AAV-mediated hepatic expression of SLC30A10 and the Thr95Ile variant attenuates manganese excess and other phenotypes in Slc30a10-deficient mice.

The Journal of biological chemistry - 1 Mar 2024

Prajapati Milankumar, Quenneville Chelsea B, Zhang Jared Z, Chong Grace S, Chiu Lauren, Ma Bangyi, Ward Lucas D, Tu Ho-Chou, Bartnikas Thomas B

Abstract excerpt

The manganese (Mn) export protein SLC30A10 is essential for Mn excretion via the liver and intestines. Patients with SLC30A10 deficiency develop Mn excess, dystonia, liver disease, and polycythemia. Recent genome-wide association studies revealed a link between the SLC30A10 variant T95I and markers of liver disease. The in vivo relevance of this variant has yet to be investigated. Using in vitro and in vivo...

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Identifiers

PMID: 38336290
DOI: 10.1016/j.jbc.2024.105732
PMCID: PMC10933546

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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