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Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Antioxidants & redox signaling - 1 Sept 2020

Schoenmakers Erik, Chatterjee Krishna

Abstract excerpt

Significance: Generalized selenoprotein deficiency has been associated with mutations in SECISBP2, SEPSECS, and TRU-TCA1-1, 3 factors that are crucial for incorporation of the amino acid selenocysteine (Sec) into at least 25 human selenoproteins. SECISBP2 and TRU-TCA1-1 defects are characterized by a multisystem phenotype due to deficiencies of antioxidant and tissue-specific selenoproteins, together with...

Topics

Antioxidants
Disease Susceptibility
Humans
Multigene Family
Oxidation-Reduction
Oxidative Stress
Phenotype
Protein Biosynthesis
Selenocysteine
Selenoproteins
Thyroid Hormones

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Identifiers

PMID: 32295391
DOI: 10.1089/ars.2020.8097
PMCID: PMC7409586

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