| http://purl.uniprot.org/citations/9927649 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9927649 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9927649 | http://www.w3.org/2000/01/rdf-schema#comment | "Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder that affects the viscera and central nervous system. A characteristic feature of NPC cells is the lysosomal accumulation of low density lipoprotein-derived cholesterol. To elucidate important structural features of the recently identified NPC1 gene product defective in NPC disease, we examined the ability of wild-type NPC1 and NPC1 mutants to correct the excessive lysosomal storage of low density lipoprotein-derived cholesterol in a model cell line displaying the NPC cholesterol-trafficking defect (CT60 Chinese hamster ovary cells). CT60 cells transfected with human wild-type NPC1 contained immunoreactive proteins of 170 and 190 kDa localized to the lysosomal/endosomal compartment. Wild-type NPC1 protein corrected the NPC cholesterol-trafficking defect in the CT60 cells. Mutation of conserved cysteine residues in the NPC1 N terminus to serine residues resulted in proteins targeted to lysosomal membranes encircling cholesterol-laden cores, whereas deletion of the C-terminal 4-aa residues containing the LLNF lysosome-targeting motif resulted in the expression of protein localized to the endoplasmic reticulum. None of these mutant NPC1 proteins corrected the NPC cholesterol-trafficking defect in CT60 cells. We conclude that transport of the NPC1 protein to the cholesterol-laden lysosomal compartment is essential for expression of its biological activity and that domains in the N terminus of the NPC1 protein are critical for mobilization of cholesterol from lysosomes."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.96.3.805"xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.96.3.805"xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Patel S."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Patel S."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Brady R.O."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Brady R.O."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Strauss J.F. III"xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Strauss J.F. III"xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Glick J.M."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Glick J.M."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Blanchette-Mackie E.J."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Blanchette-Mackie E.J."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Dwyer N.K."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Dwyer N.K."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Neufeld E.B."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Neufeld E.B."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Pentchev P.G."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Pentchev P.G."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Watari H."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/author | "Watari H."xsd:string |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/9927649 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |