A mouse model of familial porphyria cutanea tarda

scientific journal article

A mouse model of familial porphyria cutanea tarda is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2001PNAS...98..259P
P356DOI10.1073/PNAS.011481398
10.1073/PNAS.98.1.259
P932PMC publication ID14578
P698PubMed publication ID11134514

P2093author name stringN. C. Andrews
J. E. Levy
L. K. Jackson
K. R. Thomas
J. D. Phillips
M. R. Franklin
M. Bunting
J. P. Kushner
P2860cites workCytochrome P450 Induction, Uroporphyrinogen Decarboxylase Depression, Porphyrin Accumulation and Excretion, and Gender Influence in a 3-Week Rat Model of Porphyria Cutanea TardaQ50912329
Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tardaQ72222361
Disease-related conditions in relatives of patients with hemochromatosisQ73214130
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tardaQ73479476
Porphyria cutanea tardaQ74359781
Cutaneous Porphyria in TurkeyQ78906790
Crystal structure of human uroporphyrinogen decarboxylaseQ24533224
Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis AllelesQ24539508
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tardaQ24618277
High-fidelity gene targeting in embryonic stem cells by using sequence replacement vectorsQ24630186
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyriaQ24676183
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyriaQ28118865
The C282Y mutation causing hereditary hemochromatosis does not produce a null alleleQ28138010
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTQ28143875
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. OnlineQ28144490
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyriaQ28253068
HFE gene knockout produces mouse model of hereditary hemochromatosisQ28263309
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tardaQ28284565
Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNAQ28287563
Identification of a new mutation responsible for hepatoerythropoietic porphyriaQ28302834
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyriaQ28304563
Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mappingQ28590365
Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and IIIQ28678700
Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genesQ29547355
Derivation of completely cell culture-derived mice from early-passage embryonic stem cellsQ29547491
Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cellsQ29614545
Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylaseQ36268782
Characterization and crystallization of human uroporphyrinogen decarboxylaseQ36280407
Macrocyclic intermediates in the biosynthesis of porphyrinsQ39091572
Genetic variation of iron-induced uroporphyria in miceQ41969993
Order of uroporphyrinogen III decarboxylation on incubation of porphobilinogen and uroporphyrinogen III with erythrocyte uroporphyrinogen decarboxylaseQ42067146
Uroporphyrinogen decarboxylase in Saccharomyces cerevisiae. HEM12 gene sequence and evidence for two conserved glycines essential for enzymatic activityQ42610675
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†Q42988426
Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tardaQ44872150
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectporphyria cutanea tardaQ1479497
Uroporphyrinogen decarboxylaseQ14888129
P304page(s)259–264
P577publication date2001-01-02
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleA mouse model of familial porphyria cutanea tarda
P478volume98

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cites work (P2860)
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Q30487121A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines.
Q24681370A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda
Q42164539Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus
Q84587889Attenuation of polychlorinated biphenyl induced uroporphyria by iron deprivation
Q29620380Balancing acts: molecular control of mammalian iron metabolism
Q45891191Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing
Q35220569Dietary iron controls circadian hepatic glucose metabolism through heme synthesis
Q37002005Down-regulation of hepcidin in porphyria cutanea tarda
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Q92046226Heme biosynthesis and the porphyrias
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Q36459893Iron in skin of mice with three etiologies of systemic iron overload.
Q35539189Mass-spectrometric profiling of porphyrins in complex biological samples with fundamental, toxicological, and pharmacological applications
Q91428291Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies
Q40993097Porphyria cutanea tara
Q37801101Porphyria cutanea tarda – When skin meets liver
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Q92986782Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury
Q27642606Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase
Q27654683Substrate Shuttling between Active Sites of Uroporphyrinogen Decarboxylase Is Not Required to Generate Coproporphyrinogen
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Q36747020Transgenic Leishmania model for delta-aminolevulinate-inducible monospecific uroporphyria: cytolytic phototoxicity initiated by singlet oxygen-mediated inactivation of proteins and its ablation by endosomal mobilization of cytosolic uroporphyrin
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