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

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.

Molecular genetics and metabolism - 1 Jul 2007

Park Hyung-Doo, Bang You-Lim, Park Kyoung Un, Kim Jin Q, Jeong Byung-Hoon, Kim Yong-Sun, Song Young-Han, Song Junghan

Abstract excerpt

Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by elevation of blood galactose concentration and diminished galactose-1-phosphate, leading to the production of galactitol. To investigate the molecular defects of GALK1 gene and the biochemical characteristics of their mutant proteins, PCR-direct sequencing and in vitro expression analysis in Cos7 cells were performed in five...

Read the complete abstract on PubMed

Topics

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

Share to Chlorocebus aethiops
Share to COS Cells

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

Share to Galactokinase

Share to Heterozygote

Share to Infant, Newborn

Share to Mutagenesis, Insertional

Share to Mutation, Missense

Source

Identifiers

PMID: 17517531
DOI: 10.1016/j.ymgme.2007.04.005

Genes

GALK1

Variants

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

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.PMID 17517531Read ↗

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.Semantic proximity Read ↗

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.Semantic proximity Read ↗

Novel mutations in 13 probands with galactokinase deficiency.Semantic proximity Read ↗

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.Semantic proximity Read ↗

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.Semantic proximity Read ↗

The Genetic Basis of Galactosemia in Iranian Patients: Identification of Twenty Novel Mutations in GALT, GALK1 and GALE GeneSemantic proximity Read ↗

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.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 ↗

Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.Semantic proximity Read ↗

The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.Semantic proximity Read ↗

Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.Semantic proximity Read ↗

The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.Semantic proximity Read ↗

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