Pub. Date : 2016
PMID : 27830109
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Pelger-Huet anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. | Cholesterol | lamin B receptor | Homo sapiens |
| 2 | A new study has used CRISPR/Cas9-mediated genetic manipulations in a human cell system to determine that the molecular etiology of these previously poorly understood disorders is a defect in cholesterol synthesis due to loss of LBR-associated sterol C14 reductase activity. | Cholesterol | lamin B receptor | Homo sapiens |
| 3 | The study furthermore determined that disease-associated LBR point mutations reduce sterol C14 reductase activity by decreasing the affinity of LBR for the reducing agent NADPH. | NADP | lamin B receptor | Homo sapiens |
| 4 | The study furthermore determined that disease-associated LBR point mutations reduce sterol C14 reductase activity by decreasing the affinity of LBR for the reducing agent NADPH. | NADP | lamin B receptor | Homo sapiens |