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Effect of tyrosine kinase inhibitors on stemness in normal and chronic myeloid leukemia cells
Although tyrosine kinase inhibitors (TKIs) efficiently cure chronic myeloid leukemia (CML), they can fail to eradicate CML stem cells (CML-SCs). The mechanisms responsible for CML-SC survival need to be unders...
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Article
Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis
Xeroderma pigmentosum type C (XPC) is a rare autosomal recessive disorder that occurs due to inactivation of the XPC protein, an important DNA damage recognition protein involved in DNA nucleotide excision rep...
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Article
Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection
Erythropoietic protoporphyria (EPP) is an inherited defect of the ferrochelatase (FECH) gene characterized by the accumulation of toxic protoporphyrin in the liver and bone marrow resulting in severe skin phot...
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Article
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells
Congenital erythropoietic porphyria (CEP) is an inherited disease due to a deficiency in the uroporphyrinogen III synthase, the fourth enzyme of the heme biosynthesis pathway. It is characterized by accumulati...
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Article
Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells
Erythropoietic protoporphyria is characterized clinically by skin photosensitivity and biochemically by a ferrochelatase deficiency resulting in an excessive accumulation of photoreactive protoporphyrin in ery...
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Rapid analysis and efficient selection of human transduced primitive hematopoietic cells using the humanized S65T green fluorescent protein
We have developed an efficient and rapid method to analyze transduction in human hematopoietic cells and to select them. We constructed two retroviral vectors using the recombinant humanized S65T green fluores...
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Article
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria
Congenital erythropoietic porphyria (CEP) is an inherited metabolic disorder characterized by an overproduction and accumulation of porphyrins in bone marrow. This autosomal recessive disease results from a de...
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Article
Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer
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Article
Is genoty** useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
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The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse Chromosome 7
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Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay
A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uro...
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Article
Assignment of the human coproporphyrinogen oxidase to chromosome 9
By using somatic cell hybrids between human fibroblasts and hamster or mouse cells, we have assigned the gene for human coproporphyrinogen oxidase to chromosome 9.
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Article
Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect
Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To ...
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Article
The inherited enzymatic defect in porphyria variegata
Protoporphyrinogen oxidase activity and ferrochelatase activity have been measured in blood lymphocytes from patients with porphyria variegata, and from some members of the family of one patient; the mean acti...
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Article
Familial and sporadic porphyria cutanea
Uroporphyrinogen (URO) decarboxylase was measured in hemoglobin-free erythrocytes from subjects with familial porphyria cutanea: the mean activity was about 50% of that found in erythrocytes from normal subjec...