Sphingolipid Disorders Sphingolipids phospho or glycolipids S General
- Slides: 4
Sphingolipid Disorders Sphingolipids (phospho- or glycolipids) S General Structure Cer PC Sm Glc. Cb (neutral GL) Lac. Cer (Gb) Gan Eric Niederhoffer SIU-SOM
Gangliosidoses neuraminidase (sialidase) NANA b b Gal. NAc Gal Cer Glu Generalized gangliosidosis b-galactosidase GD 1 Cer b Glu NANA b NANA Cer b Glu b Gal. NAc b Glu b GM 2 Cer b Gaucher’s disease b-glucosylceramidase SAP-C Cerezyme Cer PC Niemann-Pick disease sphingomyelinase S + FA b Gal GM 1 b Glu Gal GM 3 Fabry’s disease a-galactosidase A SAP-B b b a Cer Glu Gal Cer b Sandhoff’s disease b-hexosaminidase A&B Glu Cer Gal. NAc NANA Gal b-galactosidase SAP-B, SAP-C b Tay-Sachs disease b-hexosaminidase A GM 2 activator Sialidosis neuraminidase (sialidase) SAP-B Cer Gal b Glu b Gal a Gal b Gal. NAc Krabbe’s disease b-galactosylceramidase b Cer Gal SAP-A, SAP-C Metachromatic leukodystrophy arylsulfatase A SAP-B b Cer Gal SO 3 H
Targeting of Lysosomal Enzymes to Lysosomes Addition of M 6 P to lysosomal enzymes Recognition by MPRs M 6 P independent pathways
Review Questions n n n How do you interpret ganglioside names (G, D, M, 1, 2, 3)? What do the different lysosomal enzyme names mean in the context of removing saccharides? Where does ganglioside degradation occur?
