Pub. Date : 2019 Nov 7
PMID : 31699992
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Niemann-Pick C1 (NPC1) is a Mendelian disorder caused by >300 variants in the NPC1 gene that disrupt cholesterol homeostasis leading to the rapid onset and progression of neurodegenerative disease. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
| 2 | Niemann-Pick C1 (NPC1) is a Mendelian disorder caused by >300 variants in the NPC1 gene that disrupt cholesterol homeostasis leading to the rapid onset and progression of neurodegenerative disease. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
| 3 | Niemann-Pick C1 (NPC1) is a Mendelian disorder caused by >300 variants in the NPC1 gene that disrupt cholesterol homeostasis leading to the rapid onset and progression of neurodegenerative disease. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
| 4 | We determine the sequence-to-function-to-structure relationships of the NPC1 polypeptide fold required for membrane trafficking and generation of a tunnel that mediates cholesterol flux in late endosomal/lysosomal (LE/Ly) compartments. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |