The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria (Q24297040)

erythropoietic protoporphyria

GOA release 2020-03-11

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S Sassa

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Attallah Kappas

object named as

A Kappas

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author name string

Y Nakahashi

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H Fujita

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S Taketani

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N Ishida

Proceedings of the National Academy of Sciences of the United States of America

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language of work or name

English

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publication date

1 January 1992

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published in

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volume

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issue

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page(s)

281-5

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cites work

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

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Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts

19 March 2017

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Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

19 March 2017

1 reference

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Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

19 March 2017

1 reference

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Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia

19 March 2017

1 reference

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Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria

27 September 2017

1 reference

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Genetic aspects of erythropoietic protoporphyria

27 September 2017

1 reference

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A method for isolation of intact, translationally active ribonucleic acid.

27 September 2017

1 reference

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Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria

27 September 2017

1 reference

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Nonsense mutations in the human beta-globin gene affect mRNA metabolism

27 September 2017

1 reference

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

27 September 2017

1 reference

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A secondary structure at the 3' splice site affects the in vitro splicing reaction of mouse immunoglobulin mu chain pre-mRNAs

27 September 2017

1 reference

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Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

27 September 2017

1 reference

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A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

27 September 2017

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Uridine branch acceptor is a cis-acting element involved in regulation of the alternative processing of calcitonin/CGRP-l pre-mRNA.

27 September 2017

1 reference

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Sequences involved in the control of adenovirus L1 alternative RNA splicing

27 September 2017

1 reference

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Erythropoietic protoporphyria 10 years experience

27 September 2017

1 reference

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Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. II. Different binding of erythrocyte protoporphyrin to hemoglobin

27 September 2017

1 reference

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Study of factors causing excess protoporphyrin accumulation in cultured skin fibroblasts from patients with protoporphyria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48220

Inheritance in protoporphyria. Comparison of haem synthetase activity in skin fibroblasts with clinical features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48220

Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48220

Purification and substrate specificity of bovine liver-ferrochelatase.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48220

The rapid and decremental change in haem oxygenase mRNA during erythroid differentiation of murine erythroleukaemia cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48220

Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48220

Diminished erythroid ferrochelatase activity in protoporphyria

30 May 2018

1 reference

12 December 2020

Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes

1 reference

12 December 2020

The role of branchpoint and 3'-exon sequences in the control of balanced splicing of avian retrovirus RNA

1 reference

12 December 2020

Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle

1 reference

12 December 2020

A difference in the splicing patterns of the closely related normal and variant human growth hormone gene transcripts is determined by a minimal sequence divergence between two potential splice-acceptor sites

1 reference

12 December 2020

Effects of RNA secondary structure on alternative splicing of Pre-mRNA: Is folding limited to a region behind the transcribing RNA polymerase?

1 reference

12 December 2020

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1 reference

12 December 2020

Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing.

1 reference

12 December 2020

Isolation of human ferrochelatase

1 reference

12 December 2020

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1 reference

12 December 2020

release_g7hkz2k4q5cvpkhozyplnlxoqq

Identifiers

DOI

10.1073/PNAS.89.1.281

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ADS bibcode

1992PNAS...89..281N

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/g7hkz2k4q5cvpkhozyplnlxoqq

24 November 2022