메뉴 건너뛰기




Volumn 14, Issue 2, 1998, Pages 66-69

Update on enzyme and molecular defects in porphyria

Author keywords

Acute intermittent porphyria; Congenital erythropoietic porphyria; Porphyria; Porphyria cutanea tarda; Variegate porphyria

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

EID: 0031835924     PISSN: 09054383     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0781.1998.tb00014.x     Document Type: Review
Times cited : (17)

References (25)
  • 2
    • 0029066436 scopus 로고
    • Porphobilinogen deaminase and uroporphyrinogen III synthase
    • Shoolingin-Jordan, PM. Porphobilinogen deaminase and uroporphyrinogen III synthase. J Bioenerg Biomembr 1995: 27: 181-196.
    • (1995) J Bioenerg Biomembr , vol.27 , pp. 181-196
    • Shoolingin-Jordan, P.M.1
  • 3
    • 0030959246 scopus 로고    scopus 로고
    • Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
    • Puy H, Deybach JC, Lamoril J et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997: 60: 1373-1383.
    • (1997) Am J Hum Genet , vol.60 , pp. 1373-1383
    • Puy, H.1    Deybach, J.C.2    Lamoril, J.3
  • 4
    • 0032030887 scopus 로고    scopus 로고
    • Genetic defects in the porphyrias: Types and significance
    • in press
    • Elder GH. Genetic defects in the porphyrias: types and significance. Clin Dermatol 1998: in press.
    • (1998) Clin Dermatol
    • Elder, G.H.1
  • 5
    • 0030904874 scopus 로고    scopus 로고
    • Hepatic porphyrias in children
    • Elder GH. Hepatic porphyrias in children. J Inherit Metab Dis 1997: 20: 237-246.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 237-246
    • Elder, G.H.1
  • 6
    • 0030799468 scopus 로고    scopus 로고
    • Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
    • Nordmann Y, Puy H, Da Silva V et al. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Int Med 1997: 242: 213-217.
    • (1997) J Int Med , vol.242 , pp. 213-217
    • Nordmann, Y.1    Puy, H.2    Da Silva, V.3
  • 7
    • 0027946035 scopus 로고
    • The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
    • Brownlie PD, Lambert R, Louie GV et al. The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci 1994: 3: 1644-1650.
    • (1994) Protein Sci , vol.3 , pp. 1644-1650
    • Brownlie, P.D.1    Lambert, R.2    Louie, G.V.3
  • 8
    • 0028863791 scopus 로고
    • The human protoporphyrinogen oxidase gene (PPOX) - Organization and location to chromosome 1
    • Taketani S, Inazawa J, Abe T et al. The human protoporphyrinogen oxidase gene (PPOX) - organization and location to chromosome 1. Genomics 1995: 29: 698.
    • (1995) Genomics , vol.29 , pp. 698
    • Taketani, S.1    Inazawa, J.2    Abe, T.3
  • 9
    • 0028887033 scopus 로고
    • Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
    • Roberts AG, Whatley SD, Daniels J et al. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Hum Mol Genet 1995: 4: 2387.
    • (1995) Hum Mol Genet , vol.4 , pp. 2387
    • Roberts, A.G.1    Whatley, S.D.2    Daniels, J.3
  • 10
    • 0029983636 scopus 로고    scopus 로고
    • The South African malady
    • Jenkins T. The South African malady. Nat Genet 1996: 13: 7-9.
    • (1996) Nat Genet , vol.13 , pp. 7-9
    • Jenkins, T.1
  • 11
    • 0030140415 scopus 로고    scopus 로고
    • A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
    • Meissner PN, Dailey TA, Hift RJ et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 1996: 13: 95-97.
    • (1996) Nat Genet , vol.13 , pp. 95-97
    • Meissner, P.N.1    Dailey, T.A.2    Hift, R.J.3
  • 12
  • 13
    • 0001216235 scopus 로고    scopus 로고
    • Six new protoporphyrinogen oxidase mutation in Dutch variegate porphyria patients and the R59W mutation in historical perspective
    • De Rooij FWM, Minderman G, De Baar E et al. Six new protoporphyrinogen oxidase mutation in Dutch variegate porphyria patients and the R59W mutation in historical perspective. Acta Hematol 1997: 98 (suppl 1): 103.
    • (1997) Acta Hematol , vol.98 , Issue.1 SUPPL. , pp. 103
    • De Rooij, F.W.M.1    Minderman, G.2    De Baar, E.3
  • 15
    • 0028876657 scopus 로고
    • Congenital erythropoietic porphyria: Identification and expression of ten mutations in the uroporphyrinogen III synthase gene
    • Xu W, Warner CA, Deswick RJ. Congenital erythropoietic porphyria: identification and expression of ten mutations in the uroporphyrinogen III synthase gene. J Clin Invest 1995: 95: 905-912
    • (1995) J Clin Invest , vol.95 , pp. 905-912
    • Xu, W.1    Warner, C.A.2    Deswick, R.J.3
  • 16
    • 0029960531 scopus 로고    scopus 로고
    • A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
    • Fontanellas A, Bensidhoum M, De Salamanca RE et al. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet 1996: 4: 272-282.
    • (1996) Eur J Hum Genet , vol.4 , pp. 272-282
    • Fontanellas, A.1    Bensidhoum, M.2    De Salamanca, R.E.3
  • 17
    • 0029738227 scopus 로고    scopus 로고
    • Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease)
    • Zix-Kieffer I, Langer B, Eyer D et al. Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease). Bone Marrow Transplant 1996: 18: 217-220.
    • (1996) Bone Marrow Transplant , vol.18 , pp. 217-220
    • Zix-Kieffer, I.1    Langer, B.2    Eyer, D.3
  • 18
    • 0030905555 scopus 로고    scopus 로고
    • Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria
    • Mazurier F, Moreau-Gaudry F, Salesse S et al. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria. J Inherit Metab Dis 1997: 20: 247-257.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 247-257
    • Mazurier, F.1    Moreau-Gaudry, F.2    Salesse, S.3
  • 19
    • 0030050871 scopus 로고    scopus 로고
    • Prenatal diagnosis in congenital erythropoietic porphyria by metabolite measurement and DNA mutation analysis
    • Ged C, Moreau-Gaudry F, Taine L et al. Prenatal diagnosis in congenital erythropoietic porphyria by metabolite measurement and DNA mutation analysis. Prenatal Diag 1996: 16: 83-86.
    • (1996) Prenatal Diag , vol.16 , pp. 83-86
    • Ged, C.1    Moreau-Gaudry, F.2    Taine, L.3
  • 20
    • 0029858578 scopus 로고    scopus 로고
    • Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria
    • McManus JF, Begley CG, Sasse S et al. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. Blood 1996: 88: 3586-3600.
    • (1996) Blood , vol.88 , pp. 3586-3600
    • McManus, J.F.1    Begley, C.G.2    Sasse, S.3
  • 21
    • 0027181222 scopus 로고
    • Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda
    • Garey JR, Franklin KF, Brown AD et al. Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. Gastroenterology 1993: 105: 165-169.
    • (1993) Gastroenterology , vol.105 , pp. 165-169
    • Garey, J.R.1    Franklin, K.F.2    Brown, A.D.3
  • 22
    • 0029865411 scopus 로고    scopus 로고
    • Uroporphyrinogen decarboxylase complete gene sequence and molecular study of three families with hepatoerythropoietic porphyria
    • Moran-Jimenez, MJ, Ged C, Romana M et al. Uroporphyrinogen decarboxylase complete gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 1996: 58: 712-721.
    • (1996) Am J Hum Genet , vol.58 , pp. 712-721
    • Moran-Jimenez, M.J.1    Ged, C.2    Romana, M.3
  • 23
    • 0031892668 scopus 로고    scopus 로고
    • Porphyria cutanea tarda
    • in press
    • Elder GH. Porphyria cutanea tarda. Sem Liver Dis 1998: in press.
    • (1998) Sem Liver Dis
    • Elder, G.H.1
  • 24
    • 0031599775 scopus 로고    scopus 로고
    • Mutations in the haemochromatosis (HFE) gene, porphyria cutanea tarda and iron overload
    • in press
    • Elder GH, Worwood M. Mutations in the haemochromatosis (HFE) gene, porphyria cutanea tarda and iron overload. Hepatology 1998: in press.
    • (1998) Hepatology
    • Elder, G.H.1    Worwood, M.2
  • 25
    • 0031982781 scopus 로고    scopus 로고
    • High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda
    • in press
    • Sampietro M, Piperno A, Lupica L et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 1998: in press.
    • (1998) Hepatology
    • Sampietro, M.1    Piperno, A.2    Lupica, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.