Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (Q36527720)

14 August 2017

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (English)

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14 August 2017

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M J Prieto-Alamo

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14 August 2017

F Laval

series ordinal

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14 August 2017

language of work or name

English

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publication date

1 October 1998

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

14 August 2017

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inferred from page(s)

published in

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14 August 2017

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14 August 2017

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14 August 2017

12614-12618

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Role of the glycolytic protein, glyceraldehyde-3-phosphate dehydrogenase, in normal cell function and in cell pathology

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

RNA capping enzyme and DNA ligase: a superfamily of covalent nucleotidyl transferases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Efficient aldolase catalytic antibodies that use the enamine mechanism of natural enzymes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Expression of the E. coli fpg gene in mammalian cells reduces the mutagenicity of gamma-rays

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Two novel mutations involved in hereditary tyrosinemia type I

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

DNA ligase I mediates essential functions in mammalian cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Isolation and structure of a cDNA expressing a mammalian 3-methyladenine-DNA glycosylase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Identification of a specific inhibitor for DNA ligase I in human cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

30 September 2017

Mammalian DNA ligases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

On the enzymic defects in hereditary tyrosinemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

30 September 2017

Mammalian DNA ligases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Induction of O6-methylguanine-DNA-methyltransferase and N3-methyladenine-DNA-glycosylase in human cells exposed to DNA-damaging agents

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22879

Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.

28 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

The developmental toxicity of three antimicrobial agents observed only in nonroutine animal studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

Cloning of cardiac, kidney, and brain promoters of the feline ncx1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

Chromosomal instability in hereditary tyrosinemia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

Specific function of DNA ligase I in simian virus 40 DNA replication by human cell-free extracts is mediated by the amino-terminal non-catalytic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12614

Three distinct DNA ligases in mammalian cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9770534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of the formation of AMP-DNA intermediate and the successive reaction by human DNA ligases I and II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9770534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mammalian DNA ligase II is highly homologous with vaccinia DNA ligase. Identification of the DNA ligase II active site for enzyme-adenylate formation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9770534

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.95.21.12614

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

9770534

1 reference