Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC

פריטים דומים

• Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
  מאת: Haer-Wigman, Lonneke, et al.
  יצא לאור: (2015)
• Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate
  מאת: Choi, Yoo, et al.
  יצא לאור: (2015)
• Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
  מאת: Matthew Feldhammer, et al.
  יצא לאור: (2009-10-01)
• Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C
  מאת: Feldhammer, Matthew, et al.
  יצא לאור: (2009)
• Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C
  מאת: Pshezhetsky, Alexey V
  יצא לאור: (2015)