Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase.

Scandinavian journal of clinical and laboratory investigation - 1 Jan 2005

Brøns-Poulsen J, Christiansen L, Petersen N E, Hørder M, Kristiansen K

Abstract excerpt

Defects in the enzyme porphobilinogen deaminase (PBG-D) are associated with acute intermittent porphyria (AIP). Human PBG-D is transcribed into a housekeeping or an erythroid form as a result of differential promoter usage and splicing. In addition, three pairs of isoallelic forms have been described. However, whether the enzymatic properties of housekeeping and erythroid forms differ is unknown. In this study...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Enzyme Activation
Share to Hydroxymethylbilane Synthase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Isoenzymes

Share to Kinetics

Share to Porphyria, Acute Intermittent

Share to Recombinant Proteins

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

Identifiers

PMID: 16025832
DOI: 10.1080/00365510410003075

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase.PMID 16025832Read ↗

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).Semantic proximity Read ↗

Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.Semantic proximity Read ↗

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.Semantic proximity Read ↗

Porphobilinogen deaminase gene structure and molecular defects.Semantic proximity Read ↗

Acute intermittent porphyria: mutation analysis and identification of gene carriers in a German kindred by PCR-DGGE analysis.Semantic proximity Read ↗

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.Semantic proximity Read ↗

De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.Semantic proximity Read ↗

Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.Semantic proximity Read ↗

Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.Semantic proximity Read ↗

Acute Intermittent PorphyriaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.