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- Niemann-Pick C1-artiges Protein 1 (NPC1L1, von: Niemann-Pick C1-like protein 1) ist das Protein in der Zellmembran, das den Transport von Cholesterin, Phytosterinen, Vitamin K und anderen Lipiden in die Zelle erleichtert. Es handelt sich um einen Transporter, wobei die Art und Weise des Imports noch nicht vollständig geklärt ist. NPC1L1 wird in Säugetieren in vielen Gewebetypen gebildet, beim Menschen vor allem in der Leber und in Dünndarm-Enterozyten (wo es hauptverantwortlich für die Cholesterinaufnahme aus der Nahrung ist), aber auch in Pankreas, Nieren, Lunge, Milz, Herz, Gallenblase, Gehirn, Hoden, Magen und Muskeln. NPC1L1 ist der Angriffspunkt des Arzneistoffs Ezetimib und wird von ihm vollständig inaktiviert. Mutationen im NPC1L1-Gen sind wahrscheinlich für Resistenzen gegenüber Ezetimib verantwortlich. (de)
- Le NPC1L1 (pour « Niemann–Pick C1-like 1 ») est une protéine dont le gène est le NPC1L1 (situé sur le chromosome 7 humain), qui joue un rôle de transporteur du cholestérol. (fr)
- Niemann-Pick C1-Like 1 (NPC1L1) is a protein found on the gastrointestinal tract epithelial cells as well as in hepatocytes. Specifically, it appears to bind to a critical mediator of cholesterol absorption. The drug ezetimibe inhibits NPC1L1 causing a reduction in cholesterol absorption, resulting in a blood cholesterol reduction of between 15-20%. Polymorphic variations in NPC1L1 gene could be associated with non-response to ezetimibe treatment. NPC1L1 has been shown to be an accessory receptor for hepatitis C virus entry into cells, and thus ezetimibe might be used as a therapeutic strategy. As cancer appeared more frequently in patients treated with simvastatin-ezetimibe combination therapy in one clinical trial, it had been hypothesized that NPC1L1 by ezetimibe might be associated with an increase cancer risk. However a meta-analysis of ezetimibe clinical data showed no increased risk of cancer from treatment with ezetimibe. (en)
- La NPC1L1 (acronimo di Niemann-Pick C1-Like 1) è un gene associato all'NPC1, la cui mutazione ha come risultato la malattia di Niemann-Pick di tipo C (NPC), caratterizzata dall'accumulo di colesterolo e lipidi nei lisosomi. NPC1L1 codifica per la proteina 1 di Niemann-Pick-C1-Like 1 che si trova sulle cellule epiteliali del tratto gastrointestinale e negli epatociti e che svolge un ruolo critico nell'assorbimento del colesterolo. Il farmaco ezetimibe blocca l'NPC1L1 causando una riduzione dell'assorbimento del colesterolo, con una riduzione nel sangue tra il 15-20%. Variazioni polimorfiche nel gene NPC1L1 potrebbero essere associate a mancata risposta al trattamento con ezetimibe. È stato dimostrato che l'NPC1L1 è un recettore per l'ingresso del virus dell'epatite C nelle cellule, e quindi si ipotizza che l'ezetimibe possa essere utilizzato come terapia in questa patologia. (it)
- NPC1L1 é um gene associado a doença de Niemann-Pick. (pt)
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- Le NPC1L1 (pour « Niemann–Pick C1-like 1 ») est une protéine dont le gène est le NPC1L1 (situé sur le chromosome 7 humain), qui joue un rôle de transporteur du cholestérol. (fr)
- NPC1L1 é um gene associado a doença de Niemann-Pick. (pt)
- Niemann-Pick C1-artiges Protein 1 (NPC1L1, von: Niemann-Pick C1-like protein 1) ist das Protein in der Zellmembran, das den Transport von Cholesterin, Phytosterinen, Vitamin K und anderen Lipiden in die Zelle erleichtert. Es handelt sich um einen Transporter, wobei die Art und Weise des Imports noch nicht vollständig geklärt ist. NPC1L1 wird in Säugetieren in vielen Gewebetypen gebildet, beim Menschen vor allem in der Leber und in Dünndarm-Enterozyten (wo es hauptverantwortlich für die Cholesterinaufnahme aus der Nahrung ist), aber auch in Pankreas, Nieren, Lunge, Milz, Herz, Gallenblase, Gehirn, Hoden, Magen und Muskeln. (de)
- Niemann-Pick C1-Like 1 (NPC1L1) is a protein found on the gastrointestinal tract epithelial cells as well as in hepatocytes. Specifically, it appears to bind to a critical mediator of cholesterol absorption. The drug ezetimibe inhibits NPC1L1 causing a reduction in cholesterol absorption, resulting in a blood cholesterol reduction of between 15-20%. Polymorphic variations in NPC1L1 gene could be associated with non-response to ezetimibe treatment. NPC1L1 has been shown to be an accessory receptor for hepatitis C virus entry into cells, and thus ezetimibe might be used as a therapeutic strategy. (en)
- La NPC1L1 (acronimo di Niemann-Pick C1-Like 1) è un gene associato all'NPC1, la cui mutazione ha come risultato la malattia di Niemann-Pick di tipo C (NPC), caratterizzata dall'accumulo di colesterolo e lipidi nei lisosomi. NPC1L1 codifica per la proteina 1 di Niemann-Pick-C1-Like 1 che si trova sulle cellule epiteliali del tratto gastrointestinale e negli epatociti e che svolge un ruolo critico nell'assorbimento del colesterolo. (it)
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- Niemann-Pick C1-artiges Protein 1 (de)
- NPC1L1 (it)
- NPC1L1 (fr)
- NPC1L1 (en)
- NPC1L1 (pt)
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