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A mouse model of galactose-1-phosphate uridyl transferase deficiency.
Biochem Mol Med. 1996 Oct; 59(1):7-12.BM

Abstract

Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative routes of galactose metabolism are important in the pathogenesis of galactosemia.

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Authors+Show Affiliations

Leslie ND
Division of Human Genetics Children's Hospital Research Foundation, Cincinnati, Ohio 45229, USA.
Yager KL
No affiliation info available
McNamara PD
No affiliation info available
Segal S
No affiliation info available

MeSH

AnimalsDNA, ComplementaryDisease Models, AnimalFemaleGalactosemiasHeterozygoteLiverMaleMiceMice, KnockoutPhenotypeUDPglucose-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.

Language

eng

PubMed ID

8902187

Citation

Leslie, N D., et al. "A Mouse Model of Galactose-1-phosphate Uridyl Transferase Deficiency." Biochemical and Molecular Medicine, vol. 59, no. 1, 1996, pp. 7-12.
Leslie ND, Yager KL, McNamara PD, et al. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Mol Med. 1996;59(1):7-12.
Leslie, N. D., Yager, K. L., McNamara, P. D., & Segal, S. (1996). A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochemical and Molecular Medicine, 59(1), 7-12.
Leslie ND, et al. A Mouse Model of Galactose-1-phosphate Uridyl Transferase Deficiency. Biochem Mol Med. 1996;59(1):7-12. PubMed PMID: 8902187.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A mouse model of galactose-1-phosphate uridyl transferase deficiency. AU - Leslie,N D, AU - Yager,K L, AU - McNamara,P D, AU - Segal,S, PY - 1996/10/1/pubmed PY - 1996/10/1/medline PY - 1996/10/1/entrez SP - 7 EP - 12 JF - Biochemical and molecular medicine JO - Biochem Mol Med VL - 59 IS - 1 N2 - Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative routes of galactose metabolism are important in the pathogenesis of galactosemia. SN - 1077-3150 UR - https://www.unboundmedicine.com/medline/citation/8902187/A_mouse_model_of_galactose_1_phosphate_uridyl_transferase_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1077315096900575 DB - PRIME DP - Unbound Medicine ER -