MeSH Review:
Gangliosidoses
- Identification of candidate active site residues in lysosomal beta-hexosaminidase A. Fernandes, M.J., Yew, S., Leclerc, D., Henrissat, B., Vorgias, C.E., Gravel, R.A., Hechtman, P., Kaplan, F. J. Biol. Chem. (1997)
- Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. Asfaw, B., Schindler, D., Ledvinová, J., Cerný, B., Smíd, F., Conzelmann, E. J. Lipid Res. (1998)
- An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Martin, D.R., Krum, B.K., Varadarajan, G.S., Hathcock, T.L., Smith, B.F., Baker, H.J. Exp. Neurol. (2004)
- Review: Metabolic cardiomyopathy and conduction system defects in children. Gilbert-Barness, E. Ann. Clin. Lab. Sci. (2004)
- Lectin histochemical study of lipopigments: results with concanavalin A. Elleder, M., Goebel, H.H., Koppang, N. Adv. Exp. Med. Biol. (1989)
- Inactivation of GM1-ganglioside beta-galactosidase by a specific inhibitor: a model for ganglioside storage disease. Singer, H.S., Tiemeyer, M., Slesinger, P.A., Sinnott, M.L. Ann. Neurol. (1987)
- Critical role for glycosphingolipids in Niemann-Pick disease type C. Zervas, M., Somers, K.L., Thrall, M.A., Walkley, S.U. Curr. Biol. (2001)
- W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. Petroulakis, E., Cao, Z., Clarke, J.T., Mahuran, D.J., Lee, G., Triggs-Raine, B. Hum. Mutat. (1998)
- Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. McGlynn, R., Dobrenis, K., Walkley, S.U. J. Comp. Neurol. (2004)
- Ceroid-lipofuscinosis (Batten disease). Fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy. Hittner, H.M., Ziller, R.S. Arch. Ophthalmol. (1975)
- Juvenile parkinsonism: a heterogeneous entity. Cardoso, F., Camargos, S. Eur. J. Neurol. (2000)
- G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. Raghavan, S., Leshinsky, E., Kolodny, E.H. Neurochem. Res. (1999)
- Structure of the glycopeptide storage material in GM 1 gangliosidosis. Sequence determination with specific endo- and exoglycosidases. Tsay, G.C., Dawson, G., Li Y-T, n.u.l.l. Biochim. Biophys. Acta (1975)
- Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay. Smiljanic-Georgijev, N., Rigat, B., Xie, B., Wang, W., Mahuran, D.J. Biochim. Biophys. Acta (1997)