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Article

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

American journal of human genetics - 8 Oct 2010

Agamy Orly, Ben Zeev Bruria, Lev Dorit, Marcus Barak, Fine Dina, Su Dan, Narkis Ginat, Ofir Rivka, Hoffmann Chen, Leshinsky-Silver Esther, Flusser Hagit, Sivan Sara, Söll Dieter, Lerman-Sagie Tally, Birk Ohad S

Abstract excerpt

The essential micronutrient selenium is found in proteins as selenocysteine (Sec), the only genetically encoded amino acid whose biosynthesis occurs on its cognate tRNA in humans. In the final step of selenocysteine formation, the essential enzyme SepSecS catalyzes the conversion of Sep-tRNA to Sec-tRNA. We demonstrate that SepSecS mutations cause autosomal-recessive progressive cerebellocerebral atrophy (PCCA)...

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Identifiers

PMID: 20920667
DOI: 10.1016/j.ajhg.2010.09.007
PMCID: PMC2948803

Genes

PCCA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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