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Woods AS et al. | Gangliosides and ceramides change in a mouse model of blast induced traumatic brain injury. | 2013 | ACS Chem Neurosci | pmid:23590251 |
Ho CW et al. | Development of GlcNAc-inspired iminocyclitiols as potent and selective N-acetyl-beta-hexosaminidase inhibitors. | 2010 | ACS Chem. Biol. | pmid:20187655 |
Obi T et al. | IgM M-protein in a patient with sensory-dominant neuropathy binds preferentially to polysialogangliosides. | 1992 | Acta Neurol. Scand. | pmid:1384262 |
Sindern E et al. | Serum antibodies to GM1 and GM3-gangliosides in systemic lupus erythematosus with chronic inflammatory demyelinating polyradiculoneuropathy. | 1991 | Acta Neurol. Scand. | pmid:1887763 |
Martin DR et al. | Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. | 2005 | Acta Neuropathol. | pmid:16200419 |
Gieselmann V | What can cell biology tell us about heterogeneity in lysosomal storage diseases? | 2005 | Acta Paediatr Suppl | pmid:15895717 |
Kroll RA et al. | White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. | AJNR Am J Neuroradiol | pmid:7677013 | |
Raghavan SS et al. | GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures. | 1985 | Am. J. Hum. Genet. | pmid:2934978 |
Conzelmann E et al. | Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level. | 1983 | Am. J. Hum. Genet. | pmid:6614006 |
Inui K et al. | Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. | 1983 | Am. J. Hum. Genet. | pmid:6224417 |
Johnson WG et al. | Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies. | 1980 | Am. J. Hum. Genet. | pmid:6772023 |
O'Brien JS and Geiger B | Normal adult with absent HEX A: immunoreactive HEX A is present. | 1979 | Am. J. Hum. Genet. | pmid:507054 |
O'Brien JS et al. | Characterization of unusual hexosaminidase A (HEX A) deficient human mutants. | 1978 | Am. J. Hum. Genet. | pmid:747188 |
dos Santos MR et al. | GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. | 1991 | Am. J. Hum. Genet. | pmid:1832817 |