Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.
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Expression of the human GALK1 cDNA in COS cells produced galactokinase activity; equal protein expression and universal GK2 inactivity were not established.
"only the GALK1 cDNA produced high levels of galactokinase
activity."
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Fine structure of the human galactokinase GALK1 gene.
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The human GALK1 translation/microsome assay supports cytosolic localization and the retained negative membrane context in that experimental system, not absence of all conditional associations.
"In vitro translation
experiments of the GALK1 cDNA indicate that the protein is cytosolic and not
associated with the endoplasmic reticulum membrane."
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Novel mutations in 13 probands with galactokinase deficiency.
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
Functional analysis of disease-causing mutations in human galactokinase.
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Sugar recognition by human galactokinase.
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Recombinant human enzyme recognizes galactose and 2-deoxygalactose as substrates under the tested conditions; physiological alternate-substrate use remains unresolved.
"D-galactose and
2-deoxy-D-galactose are substrates for the enzyme"
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
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Expression of the two patient variants altered GALK activity; this supports impaired enzyme function, not a direct measurement of complete pathway flux.
"these mutations led to a drastic
modification in GALK activity"
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Molecular structure of human galactokinase: implications for type II galactosemia.
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The human structure directly resolves bound galactose and a magnesium-bound ATP analogue; this supports substrate recognition independently of equating turnover or Km with affinity.
"galactokinase with bound alpha-D-galactose and Mg-AMPPNP."
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Large-scale proteomics and phosphoproteomics of urinary exosomes.
Defining the membrane proteome of NK cells.
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The YTS membrane-proteomics abstract includes stably associated proteins in its scope; it does not identify which category contains GALK1 or resolve the target-specific peptide evidence.
"composed of integral and stably associated proteins."
Initial characterization of the human central proteome.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
N-terminome analysis of the human mitochondrial proteome.
A reference map of the human binary protein interactome.
GALK1 phosphorylates Gal to Gal1P
Defective GALK1 does not phosphorylate Gal
Defective GALK1 causes GALCT2
Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Combined Automated Annotation using Multiple IEA Methods
UniProtKB P51570 GALK1 record