Molzer B and Bernheimer H |
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay. |
1976 |
Clin. Chim. Acta |
pmid:826357
|
Purpura DP and Suzuki K |
Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. |
1976 |
Brain Res. |
pmid:824017
|
Kemp SF and Stoolmiller AC |
Studies on the biosynthesis of glyco-sphingolipids in cultured mouse neuroblastoma cells: characterization and acceptor specificities of N-acetylneuraminyl- and N-acetylgalactosaminyltransferases. |
1976 |
J. Neurochem. |
pmid:823300
|
Hoffman LM et al. |
GM2 ganglioside in fetal Tay-Sachs disease brain cultures: a model system for the disease. |
1976 |
Brain Res. |
pmid:953690
|
Itaya K and Hakomori S |
Gangliosides and 'galactoprotein A' ('LETS'-protein) of temperature-sensitive mutant of transformed 3T3 cells. |
1976 |
FEBS Lett. |
pmid:179896
|
Pierce KR et al. |
Animal model of human disease: GM2 gangliosidosis. |
1976 |
Am. J. Pathol. |
pmid:817606
|
Rapin I et al. |
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. |
1976 |
Arch. Neurol. |
pmid:175770
|
Kemp SF and Stoolmiller AC |
Biosynthesis of glycosphingolipids in cultured mouse neuroblastoma cells. Precursor-product relationships among sialoglycosphingolipids. |
1976 |
J. Biol. Chem. |
pmid:1033935
|
Hechtman P and LeBlanc D |
Purification and properties of the hexosaminidase A-activating protein from human liver. |
1977 |
Biochem. J. |
pmid:603630
|
Hoffman LM et al. |
Glycosphingolipids in fetal Tay-Sachs disease brain and lung cultures. |
1977 |
J. Neurochem. |
pmid:894310
|
Bernheimer H et al. |
Sandhoff disease: ganglioside G(M2) and asialo-G(M2) accumulation in the cerebrospinal fluid. |
1977 |
J. Neurochem. |
pmid:407331
|
Duffard RO et al. |
Ganglioside composition and biosynthesis in cultred cells derived from CNS. |
1977 |
J. Neurochem. |
pmid:406360
|
Cork LC et al. |
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. |
1977 |
Science |
pmid:404709
|
Ciesielski-Treska J et al. |
Gangliosides of active and inactive neuroblastoma clones. |
1977 |
Differentiation |
pmid:202531
|
O'Brien JS et al. |
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts. |
1977 |
Clin. Genet. |
pmid:13950
|
Geiger B and Smolarsky M |
Immunochemical determination of ganglioside GM2, by inhibition of complement-dependent liposome lysis. |
1977 |
J. Immunol. Methods |
pmid:333030
|
O'Brien JS et al. |
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants. |
1978 |
Am. J. Hum. Genet. |
pmid:747188
|
O'Neill B et al. |
Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation. |
1978 |
Neurology |
pmid:568730
|
Kosanke SD et al. |
Clinical and biochemical abnormalities in porcine GM2-gangliosidosis. |
1978 |
Vet. Pathol. |
pmid:108843
|
Conzelmann E and Sandhoff K |
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. |
1978 |
Proc. Natl. Acad. Sci. U.S.A. |
pmid:99746
|