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Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis

Holocarboxylase synthetase (HLCS) is a biotin protein ligase, which has a pivotal role in biotin-dependent metabolic pathways and epigenetic phenomena in humans. Knockdown of HLCS produces phenotypes such as heat susceptibility and decreased life span in Drosophila melanogaster, whereas knockout of...

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Détails bibliographiques
Auteurs principaux: Esaki, Shingo, Malkaram, Sridhar A, Zempleni, Janos
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2012
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306849/
https://ncbi.nlm.nih.gov/pubmed/22027809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.198
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