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

Lignende værker

• SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency
  af: Schlotawa, Lars, et al.
  Udgivet: (2011)
• Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases.
  af: Dierks, T, et al.
  Udgivet: (1999)
• A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme
  af: Roeser, Dirk, et al.
  Udgivet: (2006)
• Proprotein Convertases Process and Thereby Inactivate Formylglycine-generating Enzyme
  af: Ennemann, Eva C., et al.
  Udgivet: (2013)
• Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
  af: Schlotawa, Lars, et al.
  Udgivet: (2019)