EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.3.1.78 | Genetic Diseases, Inborn |
3090688 |
Genetic evidence for transmembrane acetylation by lysosomes. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.3.1.78 | heparan-alpha-glucosaminide n-acetyltransferase deficiency |
26459666 |
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C. |
causal interaction
unassigned |
4
0 |
| 2.3.1.78 | Lysosomal Storage Diseases |
23301227 |
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. |
causal interaction
unassigned |
3
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
33384 |
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
17397050 |
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. |
ongoing research
therapeutic application
unassigned |
2
1
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
18024218 |
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. |
causal interaction
ongoing research
unassigned |
4
4
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
18518886 |
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. |
diagnostic usage
unassigned |
1
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
19479962 |
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
19823584 |
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. |
causal interaction
ongoing research
unassigned |
2
2
0 |
| 2.3.1.78 | Mucopolysaccharidoses |
20583299 |
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). |
causal interaction
ongoing research
unassigned |
4
1
0 |
