A knock-in mouse model of congenital erythropoietic porphyria. (Q33228017)

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9 January 2020

title

A knock-in mouse model of congenital erythropoietic porphyria (English)

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9 January 2020

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9

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9 January 2020

author name string

Ged C

1

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9 January 2020

Mendez M

2

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9 January 2020

Robert E

3

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9 January 2020

Lalanne M

4

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9 January 2020

Lamrissi-Garcia I

5

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9 January 2020

Costet P

6

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Daniel JY

7

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9 January 2020

Dubus P

8

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9 January 2020

Moreau-Gaudry F

10

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9 January 2020

de Verneuil H

11

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9 January 2020

publication date

28 November 2005

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9 January 2020

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9 January 2020

volume

87

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issue

1

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page(s)

84-92

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Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

9 January 2020

cites work

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Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

7 January 2021

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Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene

7 January 2021

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Identification of two new mutations in congenital erythropoietic porphyria.

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Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

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A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

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Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.

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Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling

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Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

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A mouse model of familial porphyria cutanea tarda

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Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure

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The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7

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Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7

7 January 2021

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Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene

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Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression

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Model mice and human disease

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Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease

7 January 2021

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Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer.

7 January 2021

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Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer

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Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells

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Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy

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Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells

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Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.

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Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection

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Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression

7 January 2021

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Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria

7 January 2021

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Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias

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