Developmental Malformations
Collagen VI-related dystrophies: Ullrich congenital muscular dystrophy, Bethlem muscular dystrophy, and intermediate COL6-RD
Aug. 03, 2024
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Leloir pathway of galactose metabolism
The enzymes catalyzing the different steps are Scheme 1. Leloir pathway of galactose metabolism. The enzymes catalyzing the different steps are galactose mutarotase (GALM), galactokinase 1 (GALK), galactose-1-phosphate uridylyltransferase (GALT), and UDP-galactose-4-epimerase (GALE). Different forms of galactosemia derive from the impairment of each enzyme as shown by the diagram. (Source: Verdino A, D'Urso G, Tammone C, Scafuri B, Catapano L, Marabotti A. Simulation of the interactions of arginine with wild-type GALT enzyme and the classic galactosemia-related mutant p.Q188R by a computational approach. Molecules 2021;26[19]:6061. Creative Commons Attribution [CC BY] License, https://creativecommons.org/licenses/by/4.0.)