EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.6.1.71 | adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency |
24777061 |
Role of polymerase ? in complementing aprataxin deficiency during abasic-site base excision repair. |
causal interaction
unassigned |
2
0 |
| 3.6.1.71 | adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency |
25662216 |
Complementation of aprataxin deficiency by base excision repair enzymes. |
causal interaction
unassigned |
2
0 |
| 3.6.1.71 | adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency |
25976310 |
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. |
causal interaction
unassigned |
4
0 |
| 3.6.1.71 | adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency |
28973450 |
Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts. |
causal interaction
unassigned |
2
0 |
| 3.6.1.71 | Apraxias |
11586300 |
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 3.6.1.71 | Apraxias |
12119013 |
Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. |
unassigned |
0 |
| 3.6.1.71 | Apraxias |
12196655 |
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 3.6.1.71 | Apraxias |
15164193 |
Aprataxin mutations are a rare cause of early onset ataxia in Germany. |
causal interaction
unassigned |
4
0 |
| 3.6.1.71 | Apraxias |
15174536 |
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 3.6.1.71 | Apraxias |
15276230 |
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
