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American Journal of Human Genetics|April 1, 1990
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defectR Navon, E H Kolodny, H Mitsumoto, et al.
Acta Neuropathologica|February 15, 2000
Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantationY Oya, R L Proia, F Norflus, et al.
The Journal of Biological Chemistry|July 19, 1996
Identification of domains in human beta-hexosaminidase that determine substrate specificityM Pennybacker, B Liessem, H Moczall, et al.
The Journal of Biological Chemistry|February 25, 1989
Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblastsD V Quon, R L Proia, A V Fowler, et al.
Acta Neuropathologica|January 1, 1995
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs diseaseM Taniike, S Yamanaka, R L Proia, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1979
Immunoprecipitation and partial characterization of diphtheria toxin-binding glycoproteins from surface of guinea pig cellsR L Proia, D A Hart, R K Holmes, et al.
The Journal of Biological Chemistry|September 10, 1984
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiencyA d'Azzo, R L Proia, E H Kolodny, et al.
Genomics|December 1, 1994
The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mappingS Yamanaka, O N Johnson, M S Lyu, et al.
Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 1999
A vital role for glycosphingolipid synthesis during development and differentiationT Yamashita, R Wada, T Sasaki, et al.
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