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

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 hu...

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Detalles Bibliográficos
Autores principales: Puppala, Anupama K., French, Rachel L., Matthies, Doreen, Baxa, Ulrich, Subramaniam, Sriram, Simonović, Miljan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006159/
https://www.ncbi.nlm.nih.gov/pubmed/27576344
http://dx.doi.org/10.1038/srep32563