Galactosemias
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase (GALK) enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hyper galactosemia and formation of cataracts.
|
29893426 |
2018 |
Galactosemias
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
|
28672748 |
2017 |
Galactosemias
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Molecular structure of human galactokinase: implications for type II galactosemia.
|
15590630 |
2005 |
Galactosemias
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cloning and characterization of all three human galactose-metabolic genes (GALK, GALT and GALE) has led to the identification of a number of mutations which are generally of the missense type in patients with galactosemia, an inborn error of metabolism.
|
9540406 |
1998 |
Galactosemias
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Finally, the structure has enabled us to further our understanding on the functional consequences of mutations in human GalK which cause galactosemia.
|
15003454 |
2004 |
Galactosemias
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population.
|
22632133 |
2012 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
CTD_human |
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
|
7670469 |
1995 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
BEFREE |
Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase.
|
3043741 |
1988 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
BEFREE |
Lack of fully functional galactokinase is one cause of the inherited disease galactosemia, the main clinical manifestation of which is early onset cataracts.
|
12694189 |
2003 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
BEFREE |
Potential causes of galactosaemia include: (1) activities of three enzymes of galactose metabolism: galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT), and uridine diphosphate galactose 4'-epimerase (GALE), (2) portosystemic shunting, (3) Fanconi-Bickel syndrome, (4) tyrosinaemia.
|
16988899 |
2006 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
BEFREE |
Galactokinase (GALK1) is the enzyme responsible for converting galactose into gal-1-p. A pharmacological inhibitor of GALK1 is hypothesized to be therapeutic strategy for treating galactosemia by reducing production of gal-1-p.
|
30806949 |
2019 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
BEFREE |
Galactosemia Proteins Database 2.0 is a Web-accessible resource collecting information about the structural and functional effects of the known variations associated to the three different enzymes of the Leloir pathway encoded by the genes GALT, GALE, and GALK1 and involved in the different forms of the genetic disease globally called "galactosemia."
|
28961353 |
2018 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
LHGDN |
Galactokinase: structure, function and role in type II galactosemia.
|
15526155 |
2004 |
Galactosemias
|
0.400 |
Biomarker
|
disease |
BEFREE |
Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities.
|
12350230 |
2002 |
Galactosemias
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
GALK inhibitors, UGP up-regulation, uridine supplementation, ER stress reducers, antioxidants and pharmacological chaperones have been studied, showing rescue of biochemical and/or clinical symptoms in galactosemia.
|
31808946 |
2019 |