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Article

Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.

Scientific reports - 31 Aug 2016

Puppala Anupama K, French Rachel L, Matthies Doreen, Baxa Ulrich, Subramaniam Sriram, Simonović Miljan

Abstract excerpt

Selenocysteine synthase (SepSecS) catalyzes the terminal reaction of selenocysteine, and is vital for human selenoproteome integrity. Autosomal recessive inheritance of mutations in SepSecS-Ala239Thr, Thr325Ser, Tyr334Cys and Tyr429*-induced severe, early-onset, neurological disorders in distinct human populations. Although harboring different mutant alleles, patients presented remarkably similar phenotypes...

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Identifiers

PMID: 27576344
DOI: 10.1038/srep32563
PMCID: PMC5006159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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