EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.4.22.54 | calpain-3 deficiency |
11294923 |
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 3.4.22.54 | calpain-3 deficiency |
11485017 |
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. |
unassigned |
0 |
| 3.4.22.54 | calpain-3 deficiency |
12672459 |
Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle. |
causal interaction
diagnostic usage
ongoing research
unassigned |
2
3
3
0 |
| 3.4.22.54 | calpain-3 deficiency |
12890817 |
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A. |
causal interaction
unassigned |
4
0 |
| 3.4.22.54 | calpain-3 deficiency |
14705129 |
Calpain 3 deficiency in Quail Eater's disease. |
unassigned |
0 |
| 3.4.22.54 | calpain-3 deficiency |
15221789 |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
4
1
1 |
| 3.4.22.54 | calpain-3 deficiency |
15498466 |
Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice. |
causal interaction
unassigned |
2
0 |
| 3.4.22.54 | calpain-3 deficiency |
15694138 |
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 3.4.22.54 | calpain-3 deficiency |
16100969 |
Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 3.4.22.54 | calpain-3 deficiency |
16542520 |
Early onset calpainopathy with normal non-functional calpain 3 level. |
therapeutic application
unassigned |
1
0 |
