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

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

FEBS letters - 6 Nov 2002

Esposito Gabriella, Vitagliano Luigi, Santamaria Rita, Viola Antonietta, Zagari Adriana, Salvatore Francesco

Abstract excerpt

Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired function of human liver aldolase (B isoform). 25 enzyme-impairing mutations have been identified in the aldolase B gene. We have studied the HFI-related mutant recombinant proteins W147R, A149P, A174D, L256P, N334K and delta6ex6 in relation to aldolase B function and structure using kinetic...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Catalysis
Share to Fructose-Bisphosphate Aldolase

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

Share to Kinetics

Share to Models, Molecular

Share to Mutation, Missense

Share to Recombinant Proteins

Share to Structure-Activity Relationship

Source

Identifiers

PMID: 12417303
DOI: 10.1016/s0014-5793(02)03451-8

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

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.PMID 12417303Read ↗

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.Semantic proximity Read ↗

Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis.Semantic proximity Read ↗

The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.Semantic proximity Read ↗

The biochemical basis of hereditary fructose intoleranceSemantic proximity Read ↗

Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.Semantic proximity Read ↗

Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.Semantic proximity Read ↗

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.Semantic proximity Read ↗

Hereditary fructose intolerance.Semantic proximity Read ↗

Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.Semantic proximity Read ↗

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implicationsSemantic proximity Read ↗

The structure of human liver fructose-1,6-bisphosphate aldolase.Semantic proximity Read ↗

Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.Semantic proximity Read ↗

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