EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.4.1.186 | 1,4-alpha-glucan branching enzyme deficiency |
34405429 |
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 2.4.1.186 | Cardiomyopathies |
27718144 |
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 2.4.1.186 | Cardiomyopathies |
31628455 |
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage. |
causal interaction
ongoing research
therapeutic application
unassigned |
3
4
1
0 |
| 2.4.1.186 | Cardiomyopathies |
31791869 |
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. |
causal interaction
diagnostic usage
unassigned |
3
2
0 |
| 2.4.1.186 | Diabetes Mellitus |
8359380 |
The role of glycogenin in glycogen synthesis and non-insulin dependent diabetes mellitus. |
causal interaction
unassigned |
1
0 |
| 2.4.1.186 | Diabetes Mellitus, Type 2 |
10334321 |
Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients. |
diagnostic usage
unassigned |
1
0 |
| 2.4.1.186 | Glycogen Storage Disease |
22198226 |
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation. |
causal interaction
unassigned |
4
0 |
| 2.4.1.186 | Glycogen Storage Disease |
22226635 |
Structural and biochemical insight into glycogenin inactivation by the glycogenosis-causing T82M mutation. |
unassigned |
0 |
| 2.4.1.186 | Glycogen Storage Disease |
22248338 |
Glycogen and its metabolism: some new developments and old themes. |
therapeutic application
unassigned |
1
0 |
| 2.4.1.186 | Glycogen Storage Disease |
24976573 |
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease). |
causal interaction
unassigned |
2
0 |
