The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry

Trends in Genetics : TIG
K G Petry, J K Reichardt

Abstract

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. The predominance of missense mutations is interesting, considering the general importance of galactose metabolism for cellular energy production and proper modification of glycoproteins and glycolipids. Abnormalities in both of these macromolecules have been described in transferase-deficiency galactosemia, the most common and best-studied form of galactosemia. Thus, the parallel biochemical and molecular genetic analyses of human galactose metabolism are shedding light on this under-appreciated metabolic pathway that is critical for cellular energy production, modification of cellular macromolecules and normal human development.

References

Jun 1, 1978·The Journal of Pediatrics·H L Levy, G Hammersen
Jan 1, 1992·Human Mutation·J K Reichardt
Oct 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·G PohlentzK Sandhoff
Jul 1, 1971·Journal of Neuropathology and Experimental Neurology·C HaberlandH Hof
Oct 15, 1965·Science·H M Kalckar
Jan 1, 1996·The Journal of Pediatrics·K LaiL J Elsas
Feb 1, 1997·European Journal of Pediatrics·L L PrestozK G Petry

❮ Previous
Next ❯

Citations

Mar 12, 2005·Integrative Physiological and Behavioral Science : the Official Journal of the Pavlovian Society·Chenghua WangRoscoe A Dykman
Mar 9, 2004·Journal of Molecular Biology·Andrew HartleyDavid W Rice
Apr 18, 2001·Trends in Cell Biology·M Aebi, T Hennet
Apr 16, 2003·European Journal of Biochemistry·David J Timson, Richard J Reece
Nov 5, 2003·BMC Biochemistry·David J Timson, Richard J Reece
Feb 5, 2010·American Journal of Physiology. Renal Physiology·Sandra L TaylorRobert H Weiss
Oct 31, 2009·Journal of Enzyme Inhibition and Medicinal Chemistry·Andrew Agnew, David Timson
Jan 22, 2013·Analytical Biochemistry·Prosper KanyongJohn P Hart
Jun 16, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Dae-Hyun KoJunghan Song
Oct 28, 2009·IUBMB Life·Kent LaiKlaas J Wierenga
Sep 10, 2014·Biochemical and Biophysical Research Communications·Yinxian WenLiaobin Chen
Oct 26, 2016·Biochemical and Biophysical Research Communications·Xiangyin LiuQingzhi Gao
Jul 22, 2006·The Journal of Biological Chemistry·Marc GrailleHerman van Tilbeurgh
Aug 29, 2003·The Journal of Biological Chemistry·Xiaoli ShiZhiwu Zhu
Aug 19, 2003·The Journal of Biological Chemistry·Hazel M HoldenJames B Thoden
Feb 16, 2018·Molecular Biology of the Cell·Patrick A GibneyDavid Botstein
May 20, 2003·FEBS Letters·David J Timson, Richard J Reece
Aug 5, 2017·Cell and Tissue Research·David GrimmMichael A Menze
Mar 30, 2005·The Journal of Biological Chemistry·James B Thoden, Hazel M Holden
Dec 13, 2019·Disease Markers·Maria de Fátima Deodato de SouzaMoacyr Jesus Barreto de Melo Rêgo
Jun 11, 2003·The Journal of Biological Chemistry·James B Thoden, Hazel M Holden
Mar 18, 2004·The Journal of Biological Chemistry·James B ThodenHazel M Holden
Dec 14, 2004·The Journal of Biological Chemistry·James B ThodenHazel M Holden
Mar 23, 2021·The Science of the Total Environment·Donna A GlinskiW Matthew Henderson

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.