Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

Autor: Myriam Baes, Sietske Hogenboom, Hans R. Waterham, Sander M. Houten, Ronald J.A. Wanders, G. J. Romeijn

Publikováno v: Journal of Lipid Research, Vol 43, Iss 1, Pp 90-98 (2002)
Journal of lipid research, 43(1), 90-98. American Society for Biochemistry and Molecular Biology Inc.
Scopus-Elsevier

To unravel the conflicting data concerning the dependence of human cholesterol biosynthesis on functional peroxisomes, we determined activities and levels of selected enzymes involved in cholesterol biosynthesis in livers of PEX5 knockout mice, a wel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9539994f326ab544ab70b0354064eb65
http://www.sciencedirect.com/science/article/pii/S0022227520301917

Cholesterol biosynthesis in Zellweger syndrome: Normal activity of mevalonate kinase, mevalonate‐5′‐pyrophosphate decarboxylase and IPP‐isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver

Autor: R. J. A. Wanders, G. J. Romeijn

Publikováno v: Journal of inherited metabolic disease, 19(2), 193-196. Springer Netherlands

Cholesterol and dolichol are important constituents of cellular membranes but also serve other purposes. Cholesterol, for instance, is the precursor for bile acids and various hormones, whereas dolichol is involved in protein glycosylation in the for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2598473a41a4f665fb14f5e8cccdac5b
https://doi.org/10.1007/bf01799427

Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

Autor: Raoul C.M. Hennekam, Ronald J.A. Wanders, G. J. Romeijn, W. Oostheim, Hans R. Waterham

Publikováno v: Journal of medical genetics, 37(5), 387-389. BMJ Publishing Group

Editor—Smith-Lemli-Opitz (SLO) syndrome (MIM 270400) is an autosomal recessive disorder characterised by a wide spectrum of developmental abnormalities including craniofacial malformations, growth and mental retardation, and multiple congenital ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c680402e085c773475a61a4c7d2769c
https://doi.org/10.1136/jmg.37.5.387

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

Autor: Fernanda A.A. Langius, Ronald J.A. Wanders, Bwee Tien Poll-The, G. J. Romeijn, Martina M.J. de Barse, Frits A. Beemer, W. Oostheim, Marinus Duran, Lambertus Dorland, Hans R. Waterham

Publikováno v: American journal of medical genetics. Part A, 122A(1), 24-29. Wiley-Liss Inc.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by mental retardation, congenital anomalies, and growth deficiency. The syndrome is caused by a block in cholesterol biosynthesis at the level of 7-dehydr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::413b0ab6eed7e6dc95625583b6b7d84c
https://pure.amc.nl/en/publications/identification-of-three-patients-with-a-very-mild-form-of-smithlemliopitz-syndrome(684054bc-c44a-4779-aa9d-e3f4139e2acc).html

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Autor: Sander M. Houten, Joost Frenkel, G. J. Romeijn, Ronald J.A. Wanders, Maja Di Rocco, Ubaldo Caruso, Janet Koster, Wietse Kuis, Bwee Tien Poll-The, Hans R. Waterham, Richard I. Kelley, K. Michael Gibson, Pierre Landrieu

Publikováno v: European journal of human genetics, 9(4), 253-259. Nature Publishing Group

Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encodin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b53ba3c997614d61c79ee5182215545
https://pure.amc.nl/en/publications/organization-of-the-mevalonate-kinase-mvk-gene-and-identification-of-novel-mutations-causing-mevalonic-aciduria-and-hyperimmunoglobulinaemia-d-and-periodic-fever-syndrome(5e16f8f2-4ded-4fe2-b821-45bba0eee1a6).html