Zobrazeno 1 - 10
of 62
pro vyhledávání: '"William S. Garver"'
Autor:
Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 3 (2020)
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurol
Externí odkaz:
https://doaj.org/article/ef50034038734837b8a67902b9084e8d
Publikováno v:
Genes & Nutrition, Vol 12, Iss 1, Pp 1-9 (2017)
Abstract A large number of genome-wide association studies, transferability studies, and candidate gene studies performed in diverse populations around the world have identified gene variants that are associated with common human obesity. The mountin
Externí odkaz:
https://doaj.org/article/843572f9a9b24555a6846c7cf1310788
Autor:
William S. Garver, David Jelinek, F. John Meaney, James Flynn, Kathleen M. Pettit, Glen Shepherd, Randall A. Heidenreich, Cate M. Walsh Vockley, Graciela Castro, Gordon A. Francis
Publikováno v:
Journal of Lipid Research, Vol 51, Iss 2, Pp 406-415 (2010)
Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration. The present study provides the lipid profiles, mutations, and correspo
Externí odkaz:
https://doaj.org/article/d28a31717cb24b1ab99dc4e314a83230
Publikováno v:
Journal of Lipid Research, Vol 49, Iss 5, Pp 1090-1102 (2008)
The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol from late endosomes/lysosomes to other compartments responsible for maintaining intracellular cholesterol homeostasis. The present study examined the expression of the NPC1 gen
Externí odkaz:
https://doaj.org/article/01e843441c4f4e15b1131495699052bb
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 8, Pp 1745-1754 (2005)
The Niemann-Pick C1 (NPC1) protein functions to regulate the transport of cholesterol from late endosomes/lysosomes to other cellular compartments after lipoprotein uptake through the coated-pit pathway. The present study examines the relative expres
Externí odkaz:
https://doaj.org/article/d93df9ca1c00419db2869dbb1f3e21cb
Autor:
William S. Garver, Kumar Krishnan, Jayme R. Gallagos, Makoto Michikawa, Gordon A. Francis, Randall A. Heidenreich
Publikováno v:
Journal of Lipid Research, Vol 43, Iss 4, Pp 579-589 (2002)
The Niemann-Pick C1 (NPC1) protein regulates cholesterol transport from late endosomes-lysosomes to other intracellular compartments. In this article, cholesterol transport to caveolin-1 and caveolin-2 containing compartments, such as the trans-Golgi
Externí odkaz:
https://doaj.org/article/d067eccfb88347b0a3a60b6a543fa48c
Autor:
William S. Garver, Randall A. Heidenreich, Robert P. Erickson, Mitchell A. Thomas, Jean M. Wilson
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 5, Pp 673-687 (2000)
Niemann-Pick type C (NPC) disease is characterized by an accumulation of cholesterol and other lipids in the lysosomal compartment. In this report, we use subcellular fractionation and microscopy to determine the localization of the murine Niemann-Pi
Externí odkaz:
https://doaj.org/article/64d8b0db7d794ccd93988e6f9e3690c4
Autor:
Maximillian A. Rogers, Catherine C. Y. Chang, Robert A. Maue, Elaina M. Melton, Andrew A. Peden, William S. Garver, Junghoon Lee, Peter Schroen, Mitchell Huang, Ta-Yuan Chang
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Significance Niemann-Pick type C disease (NPCD) is an incurable genetic neurological disorder. Cells with NPC mutations fail to export cholesterol from endosomal organelle to multiple other organelles. ACAT1 is an enzyme that converts cholesterol to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a817a781ec7473dfbd6a89ca2b7e952a
https://doi.org/10.1073/pnas.2201646119
https://doi.org/10.1073/pnas.2201646119
Autor:
Bénédicte Héron, Marie T. Vanier, Marc C. Patterson, Robert Giugliani, Daniel W. Rosenberg, William S. Garver, Jackie Imrie, Olivier Morand, Yann Nadjar, Patrick Moneuse, F. John Meaney, Barbara Schwierin, Helena Jahnová
Publikováno v:
Journal of Inherited Metabolic Disease
Miglustat has been indicated for the treatment of Niemann‐Pick disease type C (NP‐C) since 2009. The aim of this observational study was to assess the effect of miglustat on long‐term survival of patients with NP‐C. Data for 789 patients from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ee288721a12870f8e8b8e36c245ac0
https://doi.org/10.1002/jimd.12245
https://doi.org/10.1002/jimd.12245
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
Scientific Reports
While homozygous pathogenic mutations in the NPC1 gene cause Niemann-Pick type C1 disease, heterozygous mutations cause highly-penetrant obesity. We aimed to investigate the prevalence of NPC1 mutations and their signatures of natural selection in 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc924f92635175cc092ba5f982aec22
https://doi.org/10.1038/s41598-020-75919-4
https://doi.org/10.1038/s41598-020-75919-4