Zobrazeno 1 - 10
of 41
pro vyhledávání: '"combined lipase deficiency"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Osnat Ben-Zeev, Maryam Hosseini, Ching-Mei Lai, Nicole Ehrhardt, Howard Wong, Angelo B. Cefalù, Davide Noto, Maurizio R. Averna, Mark H. Doolittle, Miklós Péterfy
Publikováno v:
Journal of Lipid Research, Vol 52, Iss 6, Pp 1162-1169 (2011)
Lipase maturation factor 1 (Lmf1) is an endoplasmic reticulum (ER) membrane protein involved in the posttranslational folding and/or assembly of lipoprotein lipase (LPL) and hepatic lipase (HL) into active enzymes. Mutations in Lmf1 are associated wi
Externí odkaz:
https://doaj.org/article/eef7f18d8f9047c1908f115d19b52643
Publikováno v:
Journal of Lipid Research, Vol 50, Iss 11, Pp 2265-2269 (2009)
Newly synthesized lipoprotein lipase (LPL) and related members of the lipase gene family require an endoplasmic reticulum maturation factor for attainment of enzyme activity. This factor has been identified as lipase maturation factor 1 (Lmf1), and m
Externí odkaz:
https://doaj.org/article/e5164f45b95249c7b5906bd93ecb220b
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 2, Pp 214-225 (2000)
Combined lipase deficiency (cld) is a recessive mutation in mice that causes a severe lack of lipoprotein lipase (LPL) and hepatic lipase (HL) activities, hyperlipemia, and death within 3 days after birth. Earlier studies showed that inactive LPL and
Externí odkaz:
https://doaj.org/article/9bb567761e0d4c74a9be92c39ceae296
Autor:
Howard Wong, Ching-Mei Lai, Maurizio Averna, Mark H. Doolittle, Davide Noto, Angelo B. Cefalù, Miklós Péterfy, Osnat Ben-Zeev, Maryam Hosseini, Nicole Ehrhardt
Publikováno v:
Journal of Lipid Research, Vol 52, Iss 6, Pp 1162-1169 (2011)
Lipase maturation factor 1 (Lmf1) is an endoplasmic reticulum (ER) membrane protein involved in the posttranslational folding and/or assembly of lipoprotein lipase (LPL) and hepatic lipase (HL) into active enzymes. Mutations in Lmf1 are associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6639bfd5274c8d96b51e052500a6a912
https://doi.org/10.1194/jlr.m011155
https://doi.org/10.1194/jlr.m011155
Autor:
Miklós Péterfy
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1821:790-794
Mutations in lipase maturation factor 1 (LMF1) are associated with severe hypertriglyceridemia in mice and human subjects. The underlying cause is impaired lipid clearance due to lipase deficiency. LMF1 is a chaperone of the endoplasmic reticulum (ER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de643a6397867edc6f80e18597325e21
https://doi.org/10.1016/j.bbalip.2011.10.006
https://doi.org/10.1016/j.bbalip.2011.10.006
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 2, Pp 214-225 (2000)
Combined lipase deficiency (cld) is a recessive mutation in mice that causes a severe lack of lipoprotein lipase (LPL) and hepatic lipase (HL) activities, hyperlipemia, and death within 3 days after birth. Earlier studies showed that inactive LPL and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::925408534740215adffc1a96e25d0c3f
http://www.sciencedirect.com/science/article/pii/S0022227520320551
http://www.sciencedirect.com/science/article/pii/S0022227520320551
Publikováno v:
Journal of Lipid Research, Vol 42, Iss 11, Pp 1858-1864 (2001)
Combined lipase deficiency (cld) is a recessively inherited disorder in mice associated with a deficiency of LPL and hepatic lipase (HL) activity. LPL is synthesized in cld tissues but is retained in the endoplasmic reticulum (ER), whereas mouse HL (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b710c1327ebec7ac647c87c9f6f90dd5
http://www.sciencedirect.com/science/article/pii/S0022227520315121
http://www.sciencedirect.com/science/article/pii/S0022227520315121
Publikováno v:
Journal of Lipid Research, Vol 40, Iss 11, Pp 2044-2058 (1999)
The mutations cld (combined lipase deficiency) and lec23 disrupt in a similar manner the expression of lipo- protein lipase (LPL). Whereas cld affects an unknown gene, lec23 abolishes the activity of a -glucosidase I, an enzyme es- sential for proper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48cd8ff0666f896c726218161140d8b8
http://www.sciencedirect.com/science/article/pii/S0022227520324287
http://www.sciencedirect.com/science/article/pii/S0022227520324287
Autor:
Karen Reue, Mark H. Doolittle
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 7, Pp 1387-1405 (1996)
Naturally occurring mutations in the mouse provide a unique resource for identifying genes and characterizing proteins involved in lipid metabolism. Spontaneous mouse mutations have been described that affect various aspects of lipid metabolism, incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f74e6440d980ddbe309412deb4f970
https://doi.org/10.1016/s0022-2275(20)39126-4
https://doi.org/10.1016/s0022-2275(20)39126-4