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

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.

Journal of inherited metabolic disease - 1 Feb 2008

Chhay J S, Openo K K, Eaton J S, Gentile M, Fridovich-Keil J L

Abstract excerpt

Classic galactosaemia is a potentially lethal inborn error of metabolism that results from profound impairment of galactose-1P uridylyltransferase (GALT). Like many autosomal recessive disorders, classic galactosaemia demonstrates marked allelic heterogeneity; many if not most patients are compou...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Segregation
Share to Family
Share to Galactose

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galactosemias

Share to Gene Expression Regulation, Fungal

Share to Genetic Heterogeneity

Share to Lymphocytes

Share to Yeasts

Source

Identifiers

PMID: 18210213
DOI: 10.1007/s10545-007-0786-5

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18210213-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.PMID 18210213Read ↗

Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

Allelic variation, aneuploidy, and nongenetic mechanisms suppress a monogenic trait in yeast.Semantic proximity Read ↗

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.Semantic proximity Read ↗

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.Semantic proximity Read ↗

Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.Semantic proximity Read ↗

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.Semantic proximity Read ↗

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Semantic proximity Read ↗

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.Semantic proximity Read ↗

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.Semantic proximity Read ↗

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Semantic proximity Read ↗

Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.Semantic proximity Read ↗

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