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
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799427
Reference13 articles.
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2. Dodt G, Braverman N, Wong C, et al (1995) Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.Nature Genet 9: 115–125.
3. Hodge VJ, Gould SJ, Subramani S, Moser HW, Krisans SK (1991) Normal cholesterol synthesis in human cells requires functional peroxisomes.Biochem Biophys Res Commun 181: 537–541.
4. Keller G-A, Barton MC, Shapiro PJ, Singer SJ (1986) 3-Hydroxy-3-methylglutarylcoenzyme A reductase is present in peroxisomes in normal rat liver cells.Proc Natl Acad Sci USA 82: 770–774.
5. Krisans SK (1992) The role of peroxisomes in cholesterol metabolism.Am J Respir Cell Mol Biol 7: 358–364.
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