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Volumn 21, Issue 3, 1998, Pages 309-312

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata

Author keywords

[No Author keywords available]

Indexed keywords

MEVALONIC ACID; PHOSPHOTRANSFERASE;

EID: 0031903775     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005353129761     Document Type: Conference Paper
Times cited : (13)

References (13)
  • 1
    • 0027976348 scopus 로고
    • Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficient disorders
    • Biardi L, Sreedhar A, Zokaei A, et al (1994) Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficient disorders. J Biol Chem 269: 1197-1205.
    • (1994) J Biol Chem , vol.269 , pp. 1197-1205
    • Biardi, L.1    Sreedhar, A.2    Zokaei, A.3
  • 2
    • 0030946632 scopus 로고    scopus 로고
    • Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
    • Braverman N, Steel G, Ohie C, et al (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genetics 15: 369-375.
    • (1997) Nature Genetics , vol.15 , pp. 369-375
    • Braverman, N.1    Steel, G.2    Ohie, C.3
  • 4
    • 0030814235 scopus 로고    scopus 로고
    • Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
    • Jansen GA, Mihalik SJ, Watkins PA, et al (1997) Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. J Inher Metab Dis 20: 444-446.
    • (1997) J Inher Metab Dis , vol.20 , pp. 444-446
    • Jansen, G.A.1    Mihalik, S.J.2    Watkins, P.A.3
  • 5
    • 0021961770 scopus 로고
    • 3-Hydroxy-3-methylglutarylcoenzyme A reductase is present in peroxisomes in normal rat liver cells
    • Keller GA, Barton MC, Shapiro PJ, Singer SJ (1985) 3-Hydroxy-3-methylglutarylcoenzyme A reductase is present in peroxisomes in normal rat liver cells. Proc Natl Acad Sci USA 82: 770-774.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 770-774
    • Keller, G.A.1    Barton, M.C.2    Shapiro, P.J.3    Singer, S.J.4
  • 6
    • 0023030829 scopus 로고
    • 3-Hydroxy-3-methylglutaryl coenzyme A reductase localization in rat liver peroxisomes and microsomes of control and cholestyramine-treated animals: Quantitative biochemical and immunoelectron microscopical analysis
    • Keller GA, Pazirandeh M, Krisans SK (1986) 3-Hydroxy-3-methylglutaryl coenzyme A reductase localization in rat liver peroxisomes and microsomes of control and cholestyramine-treated animals: quantitative biochemical and immunoelectron microscopical analysis. J Cell Biol 103: 875-886.
    • (1986) J Cell Biol , vol.103 , pp. 875-886
    • Keller, G.A.1    Pazirandeh, M.2    Krisans, S.K.3
  • 7
    • 0030474081 scopus 로고    scopus 로고
    • Cell compartmentalization of cholesterol biosynthesis
    • Krisans SK (1996) Cell compartmentalization of cholesterol biosynthesis. Ann NY Acad Sci USA 804: 142-164.
    • (1996) Ann NY Acad Sci USA , vol.804 , pp. 142-164
    • Krisans, S.K.1
  • 8
    • 0031003680 scopus 로고    scopus 로고
    • Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
    • Motley AM, Hettema EH, Hogenhout EM, et al (1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genetics 15: 377-380.
    • (1997) Nature Genetics , vol.15 , pp. 377-380
    • Motley, A.M.1    Hettema, E.H.2    Hogenhout, E.M.3
  • 9
    • 1842335689 scopus 로고    scopus 로고
    • Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
    • Purdue PE, Zhang JW, Skoneczny M, Lazarow PB (1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nature Genetics 15: 381-384.
    • (1997) Nature Genetics , vol.15 , pp. 381-384
    • Purdue, P.E.1    Zhang, J.W.2    Skoneczny, M.3    Lazarow, P.B.4
  • 10
    • 0026748788 scopus 로고
    • Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria
    • Schafer BL, Bishop RW, Kratuws VL, et al (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J Biol Chem 267: 13229-13238.
    • (1992) J Biol Chem , vol.267 , pp. 13229-13238
    • Schafer, B.L.1    Bishop, R.W.2    Kratuws, V.L.3
  • 12
    • 0029878455 scopus 로고    scopus 로고
    • 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
    • Wanders RJA, Romeijn GJ (1996) 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. J Inher Metab Dis 19: 193-196.
    • (1996) J Inher Metab Dis , vol.19 , pp. 193-196
    • Wanders, R.J.A.1    Romeijn, G.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.