Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Flora Ting"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 92-98 (2015)
Smith Lemli Opitz syndrome (SLOS) is an inherited malformation and mental retardation metabolic disorder with no cure. Mutations in the last enzyme of the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7), lead to cholesterol i
Externí odkaz:
https://doaj.org/article/50925a798f5747f4b73dd9a1cb1d8f47
Autor:
Ronald M. Krauss, Ba-Bie Teng, Yuanyuan Qin, Rosanne M. Crooke, Andréa C. Dosé, Zemin Yao, Jacob Strelnikov, Mohsen Amir Alipour, Marisa W. Medina, Mee J. Kim, Joseph Harmon, Feng Gao, Flora Ting
Publikováno v:
Arteriosclerosis, thrombosis, and vascular biology, vol 40, iss 5
Arterioscler Thromb Vasc Biol
Arterioscler Thromb Vasc Biol
Objective: TMEM55B (transmembrane protein 55B) is a phosphatidylinositol-(4,5)-bisphosphate (PI[4,5]P 2 ) phosphatase that regulates cellular cholesterol, modulates LDLR (low-density lipoprotein receptor) decay, and lysosome function. We tested the e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b00aa74b4d5405c9ef9f2cd1ff80a3a
https://escholarship.org/uc/item/3jh2c75s
https://escholarship.org/uc/item/3jh2c75s
Autor:
Hua Sun, Yuanyuan Qin, Marisa W. Medina, Ronald M. Krauss, Ba-Bie Teng, Joseph Harmon, Mee J. Kim, Flora Ting, Jacob Strelnikov, Andréa C. Dosé
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 38
Upregulation of low density lipoprotein receptor (LDLR) activity reduces LDL levels and coronary disease risk. LDLR releases LDL in endosomes after internalization and then is either recycled to the cell surface or transported to lysosomes for decay.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11954c16e7ebb5e92d8868f15cb01cbf
https://doi.org/10.1161/atvb.38.suppl_1.198
https://doi.org/10.1161/atvb.38.suppl_1.198
Autor:
Saurin Kadakia, Cedric H.L. Shackleton, Gordon Watson, Sean Sun, Dorothy Tabron, Saloni Pasta, Flora Ting
Publikováno v:
Molecular Therapy. 23
We are using AAV-based gene therapy to restore cholesterol biosynthesis in a mouse model for Smith Lemli Opitz syndrome (SLOS). Mutations in the 7-dehydrocholesterol reductase gene (DHCR7) are responsible for this inborn error resulting in cholestero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9952c84c15177d24d4fe34717f5604db