Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency

Multiple sulfatase deficiency (MSD) is a rare inborn error of metabolism affecting posttranslational activation of sulfatases by the formylglycine generating enzyme (FGE). Due to mutations in the encoding SUMF1 gene, FGE's catalytic capacity is impaired resulting in reduced cellular sulfatase a...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Schlotawa, Lars, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Schmid, Regula, Schmidt, Bernhard, Dierks, Thomas, Gärtner, Jutta
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3746267/
https://ncbi.nlm.nih.gov/pubmed/23321616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.291
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