Article

Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency

2023-02-21

Abstract excerpt

Manganese is an essential yet potentially toxic metal. Initially reported in 2012, mutations in SLC30A10 are the first known inherited cause of manganese excess. SLC30A10 is an apical membrane transport protein that exports manganese from hepatocytes into bile and from enterocytes into the lumen of the gastrointestinal tract. SLC30A10 deficiency results in impaired gastrointestinal manganese excretion, leading to...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 54f837f9-472e-5285-b73a-d4ed4b6b3eff
DOI: 10.1101/2023.02.20.529270

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiencyDOI 10.1101/2023.02.20.529270Read

Up-regulation of the manganese transporter SLC30A10 by hypoxia-inducible factors defines a homeostatic response to manganese toxicity.Semantic proximity Read

SLC40A1 in iron metabolism, ferroptosis, and disease: A reviewSemantic proximity Read

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.Semantic proximity Read

The solute carrier family 11 transporters: a bridge between iron homeostasis and tumor biologySemantic proximity Read

Manganese homeostasis: from rare single-gene disorders to complex phenotypes and diseases.Semantic proximity Read

Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis.Semantic proximity Read

Hereditary iron overload: Update on pathophysiology, diagnosis, and treatmentSemantic proximity Read

Pan‐cancer analysis of iron metabolic landscape across the Cancer Genome AtlasSemantic proximity Read

Iron homeostasis: transport, metabolism, and regulation.Semantic proximity Read

Hypoxia-inducible factor-2α mediates the adaptive increase of intestinal ferroportin during iron deficiency in mice.Semantic proximity Read

The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.Semantic proximity Read

Manganese Neurotoxicity: A Comprehensive Review of Pathophysiology and Inherited and Acquired DisordersSemantic proximity Read