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The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
Trends Genet. 1998 Mar; 14(3):98-102.TG

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.

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Authors+Show Affiliations

Petry KG
Institut François Magendie, INSERM U.394 Neurobiologie intégrative, Université Victor Segalen/Bordeaux 2, France. klaus.petry@bordeaux.inserm.fr
Reichardt JK
No affiliation info available

MeSH

Carbohydrate SequenceFemaleFollicle Stimulating HormoneGalactoseGalactosemiasHumansMolecular Sequence DataMutationNervous System DiseasesOvarian DiseasesUDPglucose 4-EpimeraseUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

9540406

Citation

Petry, K G., and J K. Reichardt. "The Fundamental Importance of Human Galactose Metabolism: Lessons From Genetics and Biochemistry." Trends in Genetics : TIG, vol. 14, no. 3, 1998, pp. 98-102.
Petry KG, Reichardt JK. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Trends Genet. 1998;14(3):98-102.
Petry, K. G., & Reichardt, J. K. (1998). The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Trends in Genetics : TIG, 14(3), 98-102.
Petry KG, Reichardt JK. The Fundamental Importance of Human Galactose Metabolism: Lessons From Genetics and Biochemistry. Trends Genet. 1998;14(3):98-102. PubMed PMID: 9540406.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. AU - Petry,K G, AU - Reichardt,J K, PY - 1998/4/16/pubmed PY - 1998/4/16/medline PY - 1998/4/16/entrez SP - 98 EP - 102 JF - Trends in genetics : TIG JO - Trends Genet VL - 14 IS - 3 N2 - 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. SN - 0168-9525 UR - https://www.unboundmedicine.com/medline/citation/9540406/The_fundamental_importance_of_human_galactose_metabolism:_lessons_from_genetics_and_biochemistry_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0168-9525(97)01379-6 DB - PRIME DP - Unbound Medicine ER -