Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Lecithin Acyltransferase Deficiency"'
Publikováno v:
Science, 1975 Dec . 190(4221), 1302-1304.
Externí odkaz:
https://www.jstor.org/stable/1741826
Autor:
Yasuyuki Aoyagi, Kouju Kamata, Adriaan G. Holleboom, Masayuki Kuroda, Sakiyo Asada, Shizuya Yamashita, Shun Ishibashi, Erik S.G. Stroes, Hideaki Bujo, Yasushi Saito
Publikováno v:
Arteriosclerosis, thrombosis, and vascular biology, 34(8), 1756-1762. Lippincott Williams and Wilkins
Objective— In familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD), deposition of abnormal lipoproteins in the renal stroma ultimately leads to renal failure. However, fish-eye disease (FED) does not lead to renal damage although t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b9f266ea3546406cc2b3b50827add1
https://doi.org/10.1161/atvbaha.114.303420
https://doi.org/10.1161/atvbaha.114.303420
Autor:
John J.P. Kastelein, Jan Albert Kuivenhoven, Frank Peelman, M. Mahdi Motazacker, Alinda W. M. Schimmel, Jorge Peter, Adriaan G. Holleboom, Joep C. Defesche, G. Kees Hovingh, Erik S.G. Stroes
Publikováno v:
Human mutation, 32(11), 1290-1298. Wiley-Liss Inc.
Lecithin:cholesterol acyltransferase (LCAT) is crucial to the maturation of high-density lipoprotein (HDL). Homozygosity for LCAT mutations underlies rare disorders characterized by HDL-cholesterol (HDL-c) deficiency while heterozygotes have half nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1989d17bda83ddb9b6f3c261da47ee
https://doi.org/10.1002/humu.21578
https://doi.org/10.1002/humu.21578
Autor:
Jun Wada, Takahiro Terami, Norio Koide, Hitomi Kataoka, Hiroko Yamasaki, Akihiro Katayama, Hideaki Bujo, Sanae Teshigawara, Atsuko Nakatsuka, Kentaro Inoue, Hirofumi Makino, Hitoshi Sugiyama, Motoko Kanzaki, Kazutoshi Murakami
Publikováno v:
NDT Plus
Familial lecithin:cholesterol acyltransferase deficiency (FLD) is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, low high-density lipoprotein cholesterol (HDL-C) and proteinuria. Two novel lecithin:cholesterol acy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c42a2ded79c6e05ab3c8f0af5287732
https://doi.org/10.1093/ndtplus/sfr091
https://doi.org/10.1093/ndtplus/sfr091
Our laboratory previously reported that lecithin:cholesterol acyltransferase (LCAT) and LDL receptor double knock-out mice (Ldlr(-/-)xLcat(-/-) or DKO) spontaneously develop functioning ectopic brown adipose tissue (BAT) in skeletal muscle, putativel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ea24ca33985fd2e43ad1a2e7d8927e
https://europepmc.org/articles/PMC4683272/
https://europepmc.org/articles/PMC4683272/
Autor:
Zhong-Sheng Ji, Tu T. Nguyen, Robert W. Mahley, Thomas B. Crotty, Kent E. Kruckeberg, Timothy O'Brien, Ian D. Hay, John F. O'Brien, Pamela S. Karnes
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:4354-4358
Splenomegaly with sea-blue histiocytes is not associated with dyslipidemia, except in severe cases of hypertriglyceridemia, Tangier disease, or lecithin cholesterol acyltransferase deficiency. We describe two kindreds in which the sea-blue histiocyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ab4f3119a06d9e02223fa0c3b0c92b
https://doi.org/10.1210/jcem.85.11.6981
https://doi.org/10.1210/jcem.85.11.6981
Autor:
Shigeo Takebayashi, Ken Karasawa, Keijiro Saku, Tatsuya Takano, Tsuneo Imanaka, Shiro Jimi, Ryuta Hosoya, Hiroyuki Itabe
Publikováno v:
Journal of Biochemistry. 126:153-161
The possible involvement of lecithin-cholesterol acyltransferase (LCAT) in the metabolism of oxidized phosphatidylcholine (PC) in plasma was investigated. A variety of oxidized products are formed from PC following oxidation of low density lipoprotei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1430808e4e7077e796662c2e2a5f33
https://doi.org/10.1093/oxfordjournals.jbchem.a022416
https://doi.org/10.1093/oxfordjournals.jbchem.a022416
Autor:
Timothy J. Lyons, Santica M. Marcovina, John J. Albers, P. Haydn Pritchard, Jonny St. Armand, Brett Wagenhorst, Richard L. Klein, Alicia J. Jenkins, George Argyropoulos, W. Timothy Garvey
Publikováno v:
Journal of Lipid Research, Vol 39, Iss 9, Pp 1870-1876 (1998)
Two novel mutations were identified in a com- pound heterozygous male with lecithin:cholesterol acyl- transferase (LCAT) deficiency. Exon sequence determina- tion of the LCAT gene of the proband revealed two novel heterozygous mutations in exons one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014262bf817d6a1ad0137d93e2c66c3e
https://doi.org/10.1016/s0022-2275(20)32175-1
https://doi.org/10.1016/s0022-2275(20)32175-1
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism. 1391:256-264
Previous mutations associated with lecithin:cholesteryl acyltransferase (LCAT) deficiency syndromes have been identified in the coding regions of the LCAT gene. However, recently, an intron mutation was found in a family in which three sisters presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e89093d0f8465ea527519f25e45e78
https://doi.org/10.1016/s0005-2760(97)00198-7
https://doi.org/10.1016/s0005-2760(97)00198-7
Autor:
J.J.P. Kastelein, J. A. Kuivenhoven, E. J G M Van Voorst tot Voorst, G. Assmann, S. M. Marcovina, H. Wiebusch, H. Funke, P.H. Pritchard
Publikováno v:
Journal of clinical investigation, 96(6), 2783-2791. The American Society for Clinical Investigation
This paper describes a novel genetic defect which causes fish-eye disease in four homozygous probands and its biochemical presentation in 34 heterozygous siblings. The male index patient presented with premature coronary artery disease, corneal opaci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc52f691950b076f2c3ed05cf7e9d00
https://doi.org/10.1172/jci118348
https://doi.org/10.1172/jci118348