| Title | Date | PubMed ID |
|---|
| Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate. | 2015 Oct 23 | 26493749 |
| Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). | 2015 Jul 1 | 25859010 |
| Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. | 2010 Oct 8 | 20650889 |
| Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. | 2009 Oct 13 | 19823584 |
| Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. | 2009 Jun | 19479962 |
| Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). | 2006 Nov | 17033958 |
| An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC. | 2006 Jan | 16293432 |
| Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. | 2003 | 12842096 |
| Presence of detergent-resistant microdomains in lysosomal membranes. | 2002 Oct 18 | 12379211 |
| Design and synthesis of substrate and internal standard conjugates for profiling enzyme activity in the Sanfilippo syndrome by affinity chromatography/electrospray ionization mass spectrometry. | 2001 Jul-Aug | 11459466 |