Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

Molecular Genetics and Metabolism
P MaceratesiJ K Reichardt

Abstract

The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient individuals. The human GALE gene is about 4 kb in size and is divided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.

References

Jan 1, 1992·Human Mutation·J K Reichardt
Oct 1, 1992·Genomics·N D LeslieL J Elsas
Jul 25, 1991·Nucleic Acids Research·I J Jackson
Jan 22, 1982·Nucleic Acids Research·S M Mount
Oct 8, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·H MisumiT Shohmori

❮ Previous
Next ❯

Citations

Mar 23, 1999·Archives of Disease in Childhood·J H WalterR MacFaul
Mar 9, 2011·Protein Science : a Publication of the Protein Society·Veer S BhattPeng G Wang
Apr 18, 2001·Chemico-biological Interactions·U C OppermannH Jörnvall
Jun 28, 2011·Biochimie·Thomas J McCorvieDavid J Timson
Sep 26, 2000·Molecular Genetics and Metabolism·G Novelli, J K Reichardt
Nov 23, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hyung-Doo ParkJunghan Song
Jun 4, 2004·The Journal of Biological Chemistry·Jenny M SchulzJudith L Fridovich-Keil
Oct 28, 2009·IUBMB Life·Kent LaiKlaas J Wierenga
Nov 20, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yoichi WadaShigeo Kure
Nov 14, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Fan TongRui Gao
Jul 15, 2000·The Journal of Biological Chemistry·X F Huang, V Luu-The
Sep 25, 2018·Human Molecular Genetics·Aaron SeoMary-Claire King
Mar 9, 2005·Archives of Biochemistry and Biophysics·Maya KamaoToshio Okano

❮ 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.