(Q36868694)

16 August 2017

1 reference

title

Molecular basis of acute intermittent porphyria (English)

1 reference

16 August 2017

Wood S

1

1 reference

PubMed ID

17607885

16 August 2017

Lambert R

series ordinal

2

1 reference

PubMed ID

17607885

16 August 2017

Jordan PM

series ordinal

3

1 reference

16 August 2017

1 August 1995

1 reference

Trends in Molecular Medicine

16 August 2017

1 reference

16 August 2017

1

1 reference

16 August 2017

5

1 reference

16 August 2017

232-239

1 reference

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

16 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Purification, crystallization and properties of porphobilinogen deaminase from a recombinant strain of Escherichia coli K12

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

Evidence for participation of aspartate-84 as a catalytic group at the active site of porphobilinogen deaminase obtained by site-directed mutagenesis of the hemC gene from Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2895%2991513-3

7 January 2021

10.1016/S1357-4310(95)91513-3

Identifiers

DOI

1 reference

16 August 2017

1 reference

PubMed ID

17607885