Associated Papers
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P S et al.
Journal of Cellular Biochemistry, 2018
Role of galactose in cellular senescence.
Elzi DJ et al.
Experimental Gerontology, 2016
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Molecular structure of human galactokinase: implications for type II galactosemia.
Thoden JB et al.
The Journal of Biological Chemistry, 2005
Galactokinase: structure, function and role in type II galactosemia.
Holden HM et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Sangiuolo F et al.
Human Mutation, 2004
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
Hartley A et al.
Journal of Molecular Biology, 2004
Molecular structure of galactokinase.
Thoden JB et al.
The Journal of Biological Chemistry, 2003
Functional analysis of disease-causing mutations in human galactokinase.
Timson DJ et al.
European Journal of Biochemistry, 2003
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
Reich S et al.
Pediatric Research, 2002
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Kalaydjieva L et al.
American Journal of Human Genetics, 1999
Molecular characterization of galactokinase deficiency in Japanese patients.
Asada M et al.
Journal of Human Genetics, 1999
The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
Petry KG et al.
Trends in Genetics : Tig, 1998
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Stambolian D et al.
Nature Genetics, 1995
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