Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kyra L Somers"'
Autor:
E D Carstea, Kyra L Somers, Michael Royals, Mary Anna Thrall, David A. Wenger, Mohammad A. Rafi
Publikováno v:
Molecular Genetics and Metabolism. 79:99-103
Niemann-Pick C (NPC) disease is an autosomal recessive neurovisceral lysosomal storage disorder that results in defective intracellular transport of cholesterol. The major form of human NPC (NPC1) has been mapped to chromosome 18, the NPC1 gene (NPC1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c8a1a18ffa1c9a3e9602b2dd8df158
https://doi.org/10.1016/s1096-7192(03)00074-x
https://doi.org/10.1016/s1096-7192(03)00074-x
Publikováno v:
Current Biology. 11:1283-1287
Niemann-Pick type C (NPC) disease is a cholesterol lipidosis caused by mutations in NPC1 and NPC2 gene loci [1]. Most human cases are caused by defects in NPC1 [2], as are the spontaneously occurring NPC diseases in mice [3] and cats [4]. NPC1 protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a74a06656995cfd73af6e06e9fe22a35
https://doi.org/10.1016/s0960-9822(01)00396-7
https://doi.org/10.1016/s0960-9822(01)00396-7
Autor:
Randall A. Heidenreich, Mary Anna Thrall, Kumar Krishnan, Thomas W. Mitchell, Kyra L Somers, William S. Garver
Publikováno v:
Molecular genetics and metabolism. 76(1)
Niemann–Pick type C (NPC) disease is a rare inherited metabolic disorder characterized by hepatosplenomegaly, progressive neurodegeneration, and storage of lipids such as cholesterol and glycosphingolipids in most tissues. The current study was con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a69802a9fe2800e854c67d5dcc0bbb0
https://pubmed.ncbi.nlm.nih.gov/12175778
https://pubmed.ncbi.nlm.nih.gov/12175778
Autor:
Mary Anna Thrall, Heather E. Connally, Kyra L Somers, C. A. Just, Robin W. Allison, R. Fulton, P. C. Schultheiss, Mary O. Smith, Thomas W. Mitchell, Diane E. Brown, Dwayne W. Hamar, David A. Wenger
Publikováno v:
Journal of inherited metabolic disease. 24(4)
A feline model of Niemann–Pick disease type C (NPC) was employed to evaluate the effect of dietary cholesterol restriction on progression of disease. Two NPC-affected treated cats were fed a cholesterol-restricted diet beginning at 8 weeks of age;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::316d40c252855cad5cd476a1854e6b89
https://pubmed.ncbi.nlm.nih.gov/11596647
https://pubmed.ncbi.nlm.nih.gov/11596647