Molecular basis of acute intermittent porphyria

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

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

1988 • 313 citations

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

1992 • 197 citations

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

1987 • 143 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

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

1989 • 123 citations

Tissue-specific splicing mutation in acute intermittent porphyria.

1989 • 122 citations

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

1991 • 109 citations

Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human Gene

1993 • 104 citations

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

1995 • 104 citations

Biosynthesis of tetrapyrroles

1993 • 99 citations

The biosynthesis of the tetrapyrrole pigments

1994 • 86 citations

Biosynthesis of Tetrapyrroles

1991 • 84 citations

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

1988 • 82 citations

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

1994 • 78 citations

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

1988 • 72 citations

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

1990 • 70 citations

Biosynthesis of the natural porphyrins: proof that hydroxymethylbilane synthase (porphobilinogen deaminase) uses a novel binding group in its catalytic action

1987 • 68 citations

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 expression of the erythroid-specific enzyme.

1994 • 67 citations

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

1985 • 64 citations

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

1992 • 63 citations

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

1981 • 62 citations

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

1991 • 59 citations

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

1991 • 58 citations

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

1994 • 50 citations

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

1991 • 47 citations

Reconstitution of apo‐porphobilinogen deaminase: Structural changes induced by cofactor binding

1989 • 43 citations

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

1992 • 40 citations

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland*

1992 • 40 citations

Porphobilinogen deaminase and its structural similarity to the bidomain binding proteins

1993 • 30 citations

Structural Studies on Porphobilinogen Deaminase

2007 • 11 citations