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Science 7 November 1986:
Vol. 234. no. 4777, pp. 732 - 734
DOI: 10.1126/science.3775362
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Articles

Science, Vol 234, Issue 4777, 732-734
Copyright © 1986 by American Association for the Advancement of Science

articles

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

H de Verneuil, B Grandchamp, C Beaumont, C Picat, and Y Nordmann

Uroporphyrinogen decarboxylase deficiency in man is responsible for familial porphyria cutanea tarda and hepatoerythropoietic porphyria. A recent study of a family with hepatoerythropoietic porphyria showed that the enzyme defect resulted from rapid degradation of the protein in vivo. Cloning and sequencing of a complementary DNA for the mutated gene revealed that the mutation was due to the replacement of a glycine residue by a glutamic acid residue at position 281. This base change leads to a protein that is very rapidly degraded in the presence of cell lysate. Characterization of the mutation will allow comparison of this defect in a homozygous patient with defects in other patients with familial porphyria cutanea tarda.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Description of a New Mutation in Hepatoerythropoietic Porphyria and Prenatal Exclusion of a Homozygous Fetus.
C. Ged, D. Ozalla, C. Herrero, M. Lecha, M. Mendez, H. de Verneuil, and J. M. Mascaro (2002)
Arch Dermatol 138, 957-960
   Abstract »    Full Text »    PDF »
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
J. D. Phillips, T. L. Parker, H. L. Schubert, F. G. Whitby, C. P. Hill, and J. P. Kushner (2001)
Blood 98, 3179-3185
   Abstract »    Full Text »    PDF »
Correction of Uroporphyrinogen Decarboxylase Deficiency (Hepatoerythropoietic Porphyria) in Epstein-Barr Virus-Transformed B-Cell Lines by Retrovirus-Mediated Gene Transfer: Fluorescence-Based Selection of Transduced Cells.
A. Fontanellas, F. Mazurier, F. Moreau-Gaudry, F. Belloc, C. Ged, and H. de Verneuil (1999)
Blood 94, 465-474
   Abstract »    Full Text »    PDF »
A Porphyrin Pathway Impairment Is Responsible for the Phenotype of a Dominant Disease Lesion Mimic Mutant of Maize.
G. Hu, N. Yalpani, S. P. Briggs, and G. S. Johal (1998)
PLANT CELL 10, 1095-1106
   Abstract »    Full Text »
A mouse model of familial porphyria cutanea tarda.
J. D. Phillips, L. K. Jackson, M. Bunting, M. R. Franklin, K. R. Thomas, J. E. Levy, N. C. Andrews, and J. P. Kushner (2001)
PNAS 98, 259-264
   Abstract »    Full Text »    PDF »


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Science. ISSN 0036-8075 (print), 1095-9203 (online)