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Proceedings of the National Academy of Sciences of the United States of America|March 1, 1988
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genesR L ProiaThe Journal of Biological Chemistry|May 15, 1992
Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesisG Weitz, R L ProiaEuropean Journal of Biochemistry|June 15, 1992
The carboxylesterase family exhibits C-terminal sequence diversity reflecting the presence or absence of endoplasmic-reticulum-retention sequencesS Medda, R L ProiaProceedings of the National Academy of Sciences of the United States of America|September 1, 1984
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblastsR Myerowitz, R L ProiaAmerican Journal of Human Genetics|February 1, 1991
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidaseR Navon, R L ProiaScience (New York, N.Y.)|March 17, 1989
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs diseaseR Navon, R L ProiaThe Journal of Biological Chemistry|April 25, 1987
Organization of the gene encoding the human beta-hexosaminidase alpha-chainR L Proia, E SoraviaProceedings of the National Academy of Sciences of the United States of America|October 1, 1982
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs diseaseR L Proia, E F NeufeldGlycobiology|February 13, 2001
Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseasesC J Tifft, R L ProiaAmerican Journal of Human Genetics|March 1, 1995
The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationD J Boles, R L ProiaPageof 6