Tay-Sachs Disease: Generalized Absence of a Beta-DN-Acetylhexosaminidase Component -
S Okada, JS O'Brien - Science, 1969 - sciencemag.org
Tay-Sachs Disease: Generalized Absence of a Beta-DN-Acetylhexosaminidase Component ...
blood plasma, and leukocytes from nine patients with Tay-Sachs disease. ...

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside … -
K Sango, S Yamanaka, A Hoffmann, Y Okuda, A … - Nat Genet, 1995 - ncbi.nlm.nih.gov
... Although exhibiting biochemical and pathologic features of the disease,
the Tay-Sachs model showed no neurological abnormalities. ...

… of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. -
S Yamanaka, MD Johnson, A Grinberg, H Westphal, JN … - Proceedings of the National Academy of Sciences of the …, 1994 - pubmedcentral.nih.gov
... Copyright notice. Targeted disruption of the Hexa gene results in mice with
biochemical and pathologic features of Tay-Sachs disease. ...

Prevention of Lysosomal Storage in Tay-Sachs Mice Treated with N-Butyldeoxynojirimycin -
FM Platt, GR Neises, G Reinkensmeier, MJ Townsend, … - Science, 1997 - sciencemag.org
... This would include Gaucher (types 1, 2, and 3), Fabry disease, Tay-Sachs disease,
Sandhoff disease, G M1 gangliosidosis, and fucosidosis. ...

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha- … -
R Myerowitz, FC Costigan - Journal of Biological Chemistry, 1988 - ASBMB
... The Major Defect in Ashkenazi Jews with Tay-Sachs Disease Is an Insertion
in the Gene for the at-Chain of &Hexosaminidase* (Received ...

… - hexosaminidase alpha- subunit gene (the gene defect of Tay- Sachs disease) in mouse brains … -
HD Lacorazza, JD Flax, EY Snyder, M Jendoubi - Nature Medicine, 1996 - nature.com
... Expression of human -hexosaminidase -subunit gene (the gene defect of Tay-Sachs
disease) in mouse brains upon engraftment of transduced progenitor cells. ...

… chitobiase structure provides insight into catalytic mechanism and the basis of Tay?Sachs disease -
I Tews, A Perrakis, A Oppenheim, Z Dauter, KS … - Nature Structural Biology, 1996 - nature.com
... nsb0796-638 Bacterial chitobiase structure provides insight into catalytic
mechanism and the basis of Tay-Sachs disease. Ivo Tews ...

Identification of an altered splice site in Ashkenazi Tay-Sachs disease -
E Arpaia, A Dumbrille-Ross, T Maler, K Neote, M … - Nature, 1988 - nature.com
Nature 333, 85 - 86 (05 May 1988); doi:10.1038/333085a0. Identification
of an altered splice site in Ashkenazi Tay-Sachs disease. ...

… in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases -
JQ Huang, JM Trasler, S Igdoura, J Michaud, N … - Human Molecular Genetics - Oxford Univ Press
... from the inability to catabolize G M2 ganglioside by [beta]-hexosaminidase A (Hex
A) due to mutations of the [alpha] subunit (Tay-Sachs disease) or [beta ...

The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. -
GM Petersen, JI Rotter, RM Cantor, LL Field, S … - American Journal of Human Genetics, 1983 - pubmedcentral.nih.gov
... Copyright notice. The Tay-Sachs disease gene in North American Jewish populations:
geographic variations and origin. ... Population dynamics of Tay-Sachs disease. ...