(Q40588503)

English

The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria

scientific article published on October 1994

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

1 reference

Europe PubMed Central

The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria (English)

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

5

object named as

Blundell TL

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Stephen P. Wood

8

object named as

Wood SP

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

author name string

Brownlie PD

1

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Lambert R

2

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Louie GV

3

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Jordan PM

4

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Warren MJ

6

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Cooper JB

7

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

publication date

1 October 1994

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Protein Science

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

10

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

1644-1650

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

An evaluation of the performance of an automated procedure for comparative modelling of protein tertiary structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Evidence for a dipyrromethane cofactor at the catalytic site of E. coli porphobilinogen deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Molecular genetics of porphyrias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

22 September 2017

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

17 June 2018

Investigation into the nature of substrate binding to the dipyrromethane cofactor of Escherichia coli porphobilinogen deaminase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

17 June 2018

Mutagenesis of arginine residues in the catalytic cleft of Escherichia coli porphobilinogen deaminase that affects dipyrromethane cofactor assembly and tetrapyrrole chain initiation and elongation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

17 June 2018

Identification of five novel mutations in the porphobilinogen deaminase gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

20 August 2018

Tertiary structural constraints on protein evolutionary diversity: templates, key residues and structure prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2142616

4 November 2018

Effect of δ-aminolaevulinic acid on gaba receptor binding in synaptic plasma membranes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7849582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reconstitution of apo-porphobilinogen deaminase: structural changes induced by cofactor binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/7849582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7849582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7849582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7849582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/PRO.5560031004

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

ResearchGate publication ID

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