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American Journal of Human Genetics|October 1, 1990
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programB H Paw, P T Tieu, M M Kaback, 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.
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.
Biochimica Et Biophysica Acta|March 23, 2000
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defectsS Esposito, N Balzano, A Daniele, et al.
European Journal of Cell Biology|August 1, 1997
Echistatin induces decrease of pp125FAK phosphorylation, disassembly of actin cytoskeleton and focal adhesions, and detachment of fibronectin-adherent melanoma cellsN Staiano, C Garbi, C Squillacioti, et al.
The Journal of Biological Chemistry|March 25, 1988
Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblastsL E Little, M M Lau, D V Quon, et al.
American Journal of Human Genetics|September 1, 1977
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?E F Neufeld, I Liebaers, C J Epstein, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 1, 1981
Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cellsM C Willingham, I H Pastan, G G Sahagian, et al.
The Journal of Biological Chemistry|June 5, 1990
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidaseB H Paw, S M Moskowitz, N Uhrhammer, et al.
The American Journal of Pathology|March 1, 1984
Morphologic and biochemical studies of canine mucopolysaccharidosis IR M Shull, R G Helman, E Spellacy, et al.
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