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Article

The syndrome of inherited partial SBP2 deficiency in humans.

Antioxidants & redox signaling - 1 Apr 2010

Dumitrescu Alexandra M, Di Cosmo Caterina, Liao Xiao-Hui, Weiss Roy E, Refetoff Samuel

Abstract excerpt

Selenium (Se) is an essential trace element required for the biosynthesis of selenoproteins. Selenocysteine insertion sequence (SECIS) binding protein 2 (SBP2) represents a key trans-acting factor for the co-translational insertion of selenocysteine into selenoproteins. In 2005, we reported the first mutations in the SBP2 gene in two families in which the probands presented with transient growth retardation...

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Identifiers

PMID: 19769464
DOI: 10.1089/ars.2009.2892
PMCID: PMC2864657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The syndrome of inherited partial SBP2 deficiency in humans.PMID 19769464Read ↗

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.Semantic proximity Read ↗

Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.Semantic proximity Read ↗

Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).Semantic proximity Read ↗

A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish BoySemantic proximity Read ↗

Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.Semantic proximity Read ↗

Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.Semantic proximity Read ↗

Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 DeficiencySemantic proximity Read ↗

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Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.Semantic proximity Read ↗

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.Semantic proximity Read ↗

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