FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2139615060> ?p ?o ?g. }

• W2139615060 endingPage "272" @default.
• W2139615060 startingPage "257" @default.
• W2139615060 abstract "Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protein in the patient fibroblasts was similar to that in control cells. However, the protein was partially mislocalized from late endocytic organelles diffusely to the cell periphery. In contrast, NPC2 was upregulated and accumulated in cholesterol storing late endocytic organelles. Two point mutations and a four-nucleotide deletion were identified in the NPC1 gene, leading to the amino acid substitutions C113R, P237S and deletion of 37 C-terminal amino acids (delC). Overexpression of individual NPC1 mutations revealed that delC produced an unstable protein, wild-type and NPC1-P237S colocalized with Rab7-positive late endosomes whereas NPC1-C113R localized to the ER, Rab7-negative endosomes and the cell surface. Expression of wild-type or NPC1-P237S cleared the lysosomal cholesterol accumulation in NPC1-deficient cells whereas C113R or delC did not. In the Finnish and Swedish population samples, alleles carrying C113R or delC were not identified, whereas approximately 5% of the alleles carried P237S. Our studies identify P237S as a prevalent NPC1 polymorphism and delC and C113R as deleterious NPC1 mutations. Moreover, they show that delC leads to rapid degradation of NPC1 and C113R to endocytic missorting of the protein. These changes are accompanied by lysosomal accumulation of NPC2, suggesting that NPC1 governs the endocytic transport of NPC2." @default.
• W2139615060 created "2016-06-24" @default.
• W2139615060 creator A5069782141 @default.
• W2139615060 date "2003-02-01" @default.
• W2139615060 modified "2023-10-16" @default.
• W2139615060 title "Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease" @default.
• W2139615060 cites W1581343159 @default.
• W2139615060 cites W1588205455 @default.
• W2139615060 cites W164396488 @default.
• W2139615060 cites W1940329105 @default.
• W2139615060 cites W1967383774 @default.
• W2139615060 cites W1973920571 @default.
• W2139615060 cites W1983014776 @default.
• W2139615060 cites W1983606596 @default.
• W2139615060 cites W1993121378 @default.
• W2139615060 cites W1994645387 @default.
• W2139615060 cites W1994847857 @default.
• W2139615060 cites W1999231417 @default.
• W2139615060 cites W2015789951 @default.
• W2139615060 cites W2017400416 @default.
• W2139615060 cites W2026324678 @default.
• W2139615060 cites W2042102113 @default.
• W2139615060 cites W2042935378 @default.
• W2139615060 cites W2045625322 @default.
• W2139615060 cites W2053203314 @default.
• W2139615060 cites W2056307910 @default.
• W2139615060 cites W2058095728 @default.
• W2139615060 cites W2062490594 @default.
• W2139615060 cites W2062579750 @default.
• W2139615060 cites W2069203896 @default.
• W2139615060 cites W2078485691 @default.
• W2139615060 cites W2080259994 @default.
• W2139615060 cites W2090127819 @default.
• W2139615060 cites W2090972365 @default.
• W2139615060 cites W2096221379 @default.
• W2139615060 cites W2096330132 @default.
• W2139615060 cites W2106050058 @default.
• W2139615060 cites W2106882534 @default.
• W2139615060 cites W2112818676 @default.
• W2139615060 cites W2117566834 @default.
• W2139615060 cites W2126528483 @default.
• W2139615060 cites W2134893181 @default.
• W2139615060 cites W2157740023 @default.
• W2139615060 cites W2317028037 @default.
• W2139615060 cites W2327289992 @default.
• W2139615060 cites W2346880178 @default.
• W2139615060 cites W2416820540 @default.
• W2139615060 cites W57019589 @default.
• W2139615060 doi "https://doi.org/10.1093/hmg/ddg025" @default.
• W2139615060 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12554680" @default.
• W2139615060 hasPublicationYear "2003" @default.
• W2139615060 type Work @default.
• W2139615060 sameAs 2139615060 @default.
• W2139615060 citedByCount "92" @default.
• W2139615060 countsByYear W21396150602012 @default.
• W2139615060 countsByYear W21396150602013 @default.
• W2139615060 countsByYear W21396150602014 @default.
• W2139615060 countsByYear W21396150602015 @default.
• W2139615060 countsByYear W21396150602016 @default.
• W2139615060 countsByYear W21396150602017 @default.
• W2139615060 countsByYear W21396150602019 @default.
• W2139615060 countsByYear W21396150602020 @default.
• W2139615060 countsByYear W21396150602021 @default.
• W2139615060 countsByYear W21396150602022 @default.
• W2139615060 countsByYear W21396150602023 @default.
• W2139615060 crossrefType "journal-article" @default.
• W2139615060 hasAuthorship W2139615060A5069782141 @default.
• W2139615060 hasBestOaLocation W21396150601 @default.
• W2139615060 hasConcept C102747710 @default.
• W2139615060 hasConcept C104317684 @default.
• W2139615060 hasConcept C1491633281 @default.
• W2139615060 hasConcept C181199279 @default.
• W2139615060 hasConcept C2778163477 @default.
• W2139615060 hasConcept C2778264360 @default.
• W2139615060 hasConcept C2778552423 @default.
• W2139615060 hasConcept C2779489717 @default.
• W2139615060 hasConcept C2780216420 @default.
• W2139615060 hasConcept C2780635549 @default.
• W2139615060 hasConcept C28005876 @default.
• W2139615060 hasConcept C501734568 @default.
• W2139615060 hasConcept C54355233 @default.
• W2139615060 hasConcept C55493867 @default.
• W2139615060 hasConcept C79747257 @default.
• W2139615060 hasConcept C86803240 @default.
• W2139615060 hasConcept C95444343 @default.
• W2139615060 hasConceptScore W2139615060C102747710 @default.
• W2139615060 hasConceptScore W2139615060C104317684 @default.
• W2139615060 hasConceptScore W2139615060C1491633281 @default.
• W2139615060 hasConceptScore W2139615060C181199279 @default.
• W2139615060 hasConceptScore W2139615060C2778163477 @default.
• W2139615060 hasConceptScore W2139615060C2778264360 @default.
• W2139615060 hasConceptScore W2139615060C2778552423 @default.
• W2139615060 hasConceptScore W2139615060C2779489717 @default.
• W2139615060 hasConceptScore W2139615060C2780216420 @default.
• W2139615060 hasConceptScore W2139615060C2780635549 @default.
• W2139615060 hasConceptScore W2139615060C28005876 @default.
• W2139615060 hasConceptScore W2139615060C501734568 @default.
• W2139615060 hasConceptScore W2139615060C54355233 @default.

• next