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Literature summary for 3.1.5.B1 extracted from
- The deoxynucleoside triphosphate triphosphohydrolase activity of SAMHD1 protein contributes to the mitochondrial DNA depletion associated with genetic deficiency of deoxyguanosine kinase (2015), J. Biol. Chem., 290, 25986-25996 .
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | in fibroblasts of patients with genetic mutations of deoxyguanosine kinase, SAMHD1 leads to manifestation of dNTP pool imbalance and DNA depletion. When SAMHD1 is silenced by siRNA transfection the composition of the mitochondrial dNTP pool approaches that of the controls, and DNA copy number increases | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | Q9Y3Z3 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| fibroblast | - |
Homo sapiens | - |
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Release 2023.1 (January 2023)
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