ArticleScientific reports2016
Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (Biomedical reports · 2025Article
- De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.American journal of human genetics · 2024Article
- Genomic Analysis Reveals Candidate Genes Underlying Sex-Linked Eyelid Coloboma, Feather Color Traits, and Climatic Adaptation in Huoyan Geese.Animals : an open access journal from MDPI · 2023Article
- Structural basis for the tRNA-dependent activation of the terminal complex of selenocysteine synthesis in humans.Nucleic acids research · 2023Article
- Observational
- Identification of Key Candidate Genes for Beak Length Phenotype by Whole-Genome Resequencing in Geese.Frontiers in veterinary science · 2022Article
- Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.International journal of molecular sciences · 2021Review
- Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.Antioxidants & redox signaling · 2020Article
- Selenocysteine mimics the effect of dietary restriction on lifespan via SKN‑1 and retards age‑associated pathophysiological changes in Caenorhabditis elegans.Molecular medicine reports · 2018Article
- Antioxidant effects of selenocysteine on replicative senescence in human adipose-derived mesenchymal stem cells.BMB reports · 2017Article
- Selenocysteine modulates resistance to environmental stress and confers anti-aging effects in C. elegans.Clinics (Sao Paulo, Brazil) · 2017Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
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 typified by cerebellar and cerebral atrophy, seizures, irritability, ataxia, and extreme spasticity. However, it has remained unclear how these genetic alterations affected the structure of SepSecS and subsequently elicited the development of a neurological pathology. Herein, our biophysical and structural characterization demonstrates that, with the exception of Tyr429*, pathogenic mutations decrease protein stability and trigger protein misfolding. We propose that the reduced stability and increased propensity towards misfolding are the main causes for the loss of SepSecS activity in afflicted patients, and that these factors contribute to disease progression. We also suggest that misfolding of enzymes regulating protein synthesis should be considered in the diagnosis and study of childhood neurological disorders.
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