Matches in SemOpenAlex for { <https://semopenalex.org/work/W2033083462> ?p ?o ?g. }
- W2033083462 endingPage "60" @default.
- W2033083462 startingPage "51" @default.
- W2033083462 abstract "Niemann-Pick type C (NPC) is a neurodegenerative lysosomal storage disorder caused by defects in the lysosomal proteins NPC1 or NPC2. NPC cells are characterized by reduced lysosomal calcium levels and impaired sphingosine transport from lysosomes. Natural killer (NK) cells kill virally infected/transformed cells via degranulation of lysosome-related organelles. Their trafficking from lymphoid tissues into the circulation is dependent on sphingosine-1-phosphate (S1P) gradients, sensed by S1P receptor 5 (S1P5). We hypothesized that NK-cell function and trafficking could be affected in NPC disease due to the combined effects of the lysosomal calcium defect and sphingosine storage. In an NPC1 mouse model, we found the frequency of NK cells was altered and phenocopied S1P5-deficient mice, consistent with defects in S1P levels. NK cells from NPC1 mice also had a defect in cytotoxicity due to a failure in degranulation of cytotoxic granules, which was associated with reduced lysosomal calcium levels. Affected NPC1 patients and NPC1 heterozygote carriers had reduced NK-cell numbers in their blood and showed similar phenotypic and developmental changes to those observed in the NPC1 mouse. These findings highlight the effects of lysosomal storage on the peripheral immune system." @default.
- W2033083462 created "2016-06-24" @default.
- W2033083462 creator A5008403948 @default.
- W2033083462 creator A5009069546 @default.
- W2033083462 creator A5010531351 @default.
- W2033083462 creator A5020767845 @default.
- W2033083462 creator A5021060288 @default.
- W2033083462 creator A5023634131 @default.
- W2033083462 creator A5026573711 @default.
- W2033083462 creator A5043346952 @default.
- W2033083462 creator A5044436689 @default.
- W2033083462 creator A5049803575 @default.
- W2033083462 creator A5053506207 @default.
- W2033083462 creator A5057272839 @default.
- W2033083462 creator A5057357812 @default.
- W2033083462 creator A5060731094 @default.
- W2033083462 creator A5067270123 @default.
- W2033083462 creator A5069768586 @default.
- W2033083462 creator A5071028184 @default.
- W2033083462 creator A5072881213 @default.
- W2033083462 creator A5078823111 @default.
- W2033083462 creator A5078895245 @default.
- W2033083462 creator A5080899318 @default.
- W2033083462 creator A5084371637 @default.
- W2033083462 creator A5085698656 @default.
- W2033083462 creator A5089969264 @default.
- W2033083462 date "2014-01-02" @default.
- W2033083462 modified "2023-10-16" @default.
- W2033083462 title "Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1" @default.
- W2033083462 cites W1496939314 @default.
- W2033083462 cites W1504038693 @default.
- W2033083462 cites W1509821238 @default.
- W2033083462 cites W1791904161 @default.
- W2033083462 cites W1944461161 @default.
- W2033083462 cites W1964742561 @default.
- W2033083462 cites W1966315835 @default.
- W2033083462 cites W1970405223 @default.
- W2033083462 cites W1970606114 @default.
- W2033083462 cites W1977451676 @default.
- W2033083462 cites W1978593035 @default.
- W2033083462 cites W1984950879 @default.
- W2033083462 cites W1989011592 @default.
- W2033083462 cites W2004893995 @default.
- W2033083462 cites W2006683926 @default.
- W2033083462 cites W2009021880 @default.
- W2033083462 cites W2011751977 @default.
- W2033083462 cites W2023691306 @default.
- W2033083462 cites W2028509959 @default.
- W2033083462 cites W2034439664 @default.
- W2033083462 cites W2035517268 @default.
- W2033083462 cites W2036806857 @default.
- W2033083462 cites W2038238765 @default.
- W2033083462 cites W2041740826 @default.
- W2033083462 cites W2045963276 @default.
- W2033083462 cites W2059467769 @default.
- W2033083462 cites W2063591664 @default.
- W2033083462 cites W2066585188 @default.
- W2033083462 cites W2068533560 @default.
- W2033083462 cites W2088273900 @default.
- W2033083462 cites W2097302710 @default.
- W2033083462 cites W2098680772 @default.
- W2033083462 cites W2098898376 @default.
- W2033083462 cites W2107727063 @default.
- W2033083462 cites W2111097423 @default.
- W2033083462 cites W2122810522 @default.
- W2033083462 cites W2125404510 @default.
- W2033083462 cites W2130397839 @default.
- W2033083462 cites W2138786573 @default.
- W2033083462 cites W2145704789 @default.
- W2033083462 cites W2146313292 @default.
- W2033083462 cites W2147586670 @default.
- W2033083462 cites W2154490838 @default.
- W2033083462 cites W2163789582 @default.
- W2033083462 cites W2168016965 @default.
- W2033083462 cites W2170793173 @default.
- W2033083462 cites W2170953364 @default.
- W2033083462 cites W3024300525 @default.
- W2033083462 doi "https://doi.org/10.1182/blood-2013-03-488692" @default.
- W2033083462 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3879905" @default.
- W2033083462 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24235134" @default.
- W2033083462 hasPublicationYear "2014" @default.
- W2033083462 type Work @default.
- W2033083462 sameAs 2033083462 @default.
- W2033083462 citedByCount "36" @default.
- W2033083462 countsByYear W20330834622014 @default.
- W2033083462 countsByYear W20330834622015 @default.
- W2033083462 countsByYear W20330834622016 @default.
- W2033083462 countsByYear W20330834622017 @default.
- W2033083462 countsByYear W20330834622018 @default.
- W2033083462 countsByYear W20330834622019 @default.
- W2033083462 countsByYear W20330834622020 @default.
- W2033083462 countsByYear W20330834622021 @default.
- W2033083462 countsByYear W20330834622022 @default.
- W2033083462 countsByYear W20330834622023 @default.
- W2033083462 crossrefType "journal-article" @default.
- W2033083462 hasAuthorship W2033083462A5008403948 @default.
- W2033083462 hasAuthorship W2033083462A5009069546 @default.
- W2033083462 hasAuthorship W2033083462A5010531351 @default.