EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.8.3.7 | arylsulfatase (type i) deficiency |
15146462 |
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. |
causal interaction
diagnostic usage
unassigned |
3
4
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
15907468 |
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
2
2
1
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
17206939 |
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
4
4
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
17360554 |
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
17446859 |
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. |
causal interaction
unassigned |
1
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
17657823 |
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. |
causal interaction
unassigned |
4
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
18157819 |
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
18508857 |
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
21224894 |
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 1.8.3.7 | arylsulfatase (type i) deficiency |
23321616 |
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. |
causal interaction
unassigned |
4
0 |
