Human inherited and mouse experimental defects in the glycosphingolipids synthesis pathway that cause myelin disorders

Human inherited and mouse experimental defects in the glycosphingolipids synthesis pathway that cause myelin disorders. Solid line arrows depict direct link between two steps, dashed line arrow implies intermediate steps that are not shown. Dark gray ovals show positions of human diseases; light gray ovals show the position of mutated genes in experimental mouse models. ARSA, arylsulfatase A; ML, Metachromatic leukodystrophy; Cst, cerebroside sulfotransferase; GALC, galactosylceramidase; KD, Krabbe disease; Cgt, UDP-galactose:ceramide galactosyltransferase; Ugcg, UDP-glucose ceramide glucosyltransferase; SMPD1, sphingomyelin phosphodiesterase-1; NPD, Niemann-Pick disease type A; FA2H, fatty acid 2-hydroxylase; DLSP, Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia; Gal-Cer, galactocerebroside; Glc-Cer: glucocerebroside; 2-OH FA, 2-hydroxy fatty acids; FA, fatty acids.

Publication

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models. (2011) Roman Chrast, et al. J Lipid Res. 2011 Mar;52(3):419-434. Figure: F4. Homo sapiens

Disease mentions