Desnick RJ - Search Results

1

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.

Ioannou YA, Zeidner KM, Grace ME, Desnick RJ. Ioannou YA, et al. Among authors: desnick rj. Biochem J. 1998 Jun 15;332 ( Pt 3)(Pt 3):789-97. doi: 10.1042/bj3320789. Biochem J. 1998. PMID: 9620884 Free PMC article.

2

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Sakuraba H, et al. Among authors: desnick rj. Genomics. 1992 Apr;12(4):643-50. doi: 10.1016/0888-7543(92)90288-4. Genomics. 1992. PMID: 1315304

3

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.

Ioannou YA, Bishop DF, Desnick RJ. Ioannou YA, et al. Among authors: desnick rj. J Cell Biol. 1992 Dec;119(5):1137-50. doi: 10.1083/jcb.119.5.1137. J Cell Biol. 1992. PMID: 1332979 Free PMC article.

4

Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene.

Wang AM, Bishop DF, Desnick RJ. Wang AM, et al. Among authors: desnick rj. J Biol Chem. 1990 Dec 15;265(35):21859-66. J Biol Chem. 1990. PMID: 2174888 Free article.

5

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ. Bernstein HS, et al. Among authors: desnick rj. J Clin Invest. 1989 Apr;83(4):1390-9. doi: 10.1172/JCI114027. J Clin Invest. 1989. PMID: 2539398 Free PMC article.

6

Nucleotide sequence of the human alpha-galactosidase A gene.

Kornreich R, Desnick RJ, Bishop DF. Kornreich R, et al. Among authors: desnick rj. Nucleic Acids Res. 1989 Apr 25;17(8):3301-2. doi: 10.1093/nar/17.8.3301. Nucleic Acids Res. 1989. PMID: 2542896 Free PMC article. No abstract available.

7

The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

Kornreich R, Bishop DF, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. Trans Assoc Am Physicians. 1989;102:30-43. Trans Assoc Am Physicians. 1989. PMID: 2561643 No abstract available.

8

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

Bishop DF, Kornreich R, Desnick RJ. Bishop DF, et al. Among authors: desnick rj. Proc Natl Acad Sci U S A. 1988 Jun;85(11):3903-7. doi: 10.1073/pnas.85.11.3903. Proc Natl Acad Sci U S A. 1988. PMID: 2836863 Free PMC article.

9

Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites.

Osiecki-Newman K, Legler G, Grace M, Dinur T, Gatt S, Desnick RJ, Grabowski GA. Osiecki-Newman K, et al. Among authors: desnick rj. Enzyme. 1988;40(4):173-88. doi: 10.1159/000469161. Enzyme. 1988. PMID: 3234317

10

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Eng CM, et al. Among authors: desnick rj. Am J Hum Genet. 1993 Dec;53(6):1186-97. Am J Hum Genet. 1993. PMID: 7504405 Free PMC article.

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