Molecular basis of disorders of human galactose metabolism: past, present, and future
G Novelli, JKV Reichardt - Molecular Genetics and Metabolism, 2000 - Elsevier
Molecular cloning and characterization of all three human galactose-metabolic genes have
led to the identification of a number of mutations which result in three forms of galactosemia
which are caused by kinase (GALK), transferase (GALT), or epimerase (GALE) deficiency.
We review here recent developments in the molecular characterization of all three disorders
of human galactose metabolism. Recent progress in the biochemical and/or structural
analyses of the GALT and GALE proteins has complemented human mutational studies …
led to the identification of a number of mutations which result in three forms of galactosemia
which are caused by kinase (GALK), transferase (GALT), or epimerase (GALE) deficiency.
We review here recent developments in the molecular characterization of all three disorders
of human galactose metabolism. Recent progress in the biochemical and/or structural
analyses of the GALT and GALE proteins has complemented human mutational studies …
