(Q33887444)

29 July 2017

Fungal metabolic model for human type I hereditary tyrosinaemia (English)

1 reference

Homogentisate 1,2-dioxygenase

29 July 2017

0 references

0 references

author

José Manuel Fernández-Cañón

1 reference

ORCID Public Data File 2021

author name string

Fernández-Cañón JM

series ordinal

1

1 reference

PubMed ID

7568087

29 July 2017

Peñalva MA

series ordinal

2

1 reference

PubMed ID

7568087

29 July 2017

language of work or name

English

0 references

publication date

1 September 1995

1 reference

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

29 July 2017

1 reference

29 July 2017

92

1 reference

29 July 2017

20

1 reference

29 July 2017

9132-9136

1 reference

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

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

The human gene for alkaptonuria (AKU) maps to chromosome 3q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Self-induced correction of the genetic defect in tyrosinemia type I

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Direct and indirect gene replacements in Aspergillus nidulans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

On the enzymic defects in hereditary tyrosinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40938

The induction and repression of nitrate reductase in the fungus Aspergillus nidulans

5 July 2018

1 reference

12 December 2020

Molecular cloning and selection of genes regulated in Aspergillus development

1 reference

12 December 2020

Isolation of differentially expressed genes

1 reference

12 December 2020

Carbon catabolite repression can account for the temporal pattern of expression of a penicillin biosynthetic gene in Aspergillus nidulans

1 reference

12 December 2020

Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.92.20.9132

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference

PubMed ID

7568087