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Article

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.

International journal of molecular sciences - 24 Jan 2022

Rosato Barbara Eleni, Marra Roberta, D'Onofrio Vanessa, Del Giudice Federica, Della Monica Simone, Iolascon Achille, Andolfo Immacolata, Russo Roberta

Abstract excerpt

Biallelic pathogenic variants in the SEC23B gene cause congenital dyserythropoietic anemia type II (CDA II), a rare hereditary disorder hallmarked by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypo-glycosylation of some red blood cell membrane proteins. Abnormalities in SEC23B, which encodes the homonymous cytoplasmic COPII (coat protein complex II) component, disturb the...

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Identifiers

PMID: 35163229
DOI: 10.3390/ijms23031304
PMCID: PMC8835815

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SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.PMID 35163229Read ↗

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.Semantic proximity Read ↗

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Human SEC23B-deficient hematopoietic stem cell model of CDAII recapitulates erythroid and cell-cycle defectsSemantic proximity Read ↗

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Semantic proximity Read ↗

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.Semantic proximity Read ↗

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Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.Semantic proximity Read ↗

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