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 mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

American journal of human genetics - 1 Sept 1997

Quimby B B, Alano A, Almashanu S, DeSandro A M, Cowan T M, Fridovich-Keil J L

Abstract excerpt

UDP-galactose-4-epimerase (GALE) is a highly conserved enzyme that catalyzes the interconversion of UDP-galactose and UDP-glucose. Impairment of this enzyme in humans results in one of two clinically distinct forms of epimerase-deficiency galactosemia-one benign, the other severe. The molecular and biochemical distinction between these disorders remains unknown. To enable structural and functional studies of both...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Child, Preschool

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

Share to Gene Expression

Share to Kinetics

Share to Pedigree

Share to Point Mutation

Share to Recombinant Proteins

Share to Saccharomyces cerevisiae

Source

Open in PubMed Open full text

Identifiers

PMID: 9326324
DOI: 10.1086/515517
PMCID: PMC1715948

Genes

GALE

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 mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.PMID 9326324Read ↗

Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.Semantic proximity Read ↗

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.Semantic proximity Read ↗

Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemiaSemantic proximity Read ↗

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.Semantic proximity Read ↗

Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.Semantic proximity Read ↗

Functional analysis of disease‐causing mutations in human UDP‐galactose 4‐epimeraseSemantic proximity Read ↗

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.Semantic proximity Read ↗

Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.Semantic proximity Read ↗

In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.Semantic proximity Read ↗

A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.Semantic proximity Read ↗

Molecular basis of disorders of human galactose metabolism: past, present, and future.Semantic proximity Read ↗

The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.Semantic proximity Read ↗

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