Výsledky vyhledávání - "Grace A. Ashley"

High Overexpression of the Human α-Galactosidase a Gene Driven by Its Promoter in Transgenic Mice: Implications for the Treatment of Fabry Disease

Autor: Ronald E. Gordon, Jon W. Gordon, Robert J. Desnick, Grace A. Ashley

Publikováno v: Journal of Investigative Medicine. 50:185-192

Background Human α-galactosidase A (α-Gal A) is the lysosomal enzyme that cleaves α-galactosyl residues from glycoconjugates and is the deficient enzyme in Fabry disease. To date, there have been no studies on the regulation of this “housekeepin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5d7f9cbf2f2526277efafa7be8a17c6
https://doi.org/10.2310/6650.2002.33432

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Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

Autor: Junaid Shabbeer, Christine M. Eng, Robert J. Desnick, Makiko Yasuda, Grace A. Ashley

Publikováno v: Journal of Human Genetics. 46:192-196

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dea51146c25b25a2d5b0e45bfd1b7590
https://doi.org/10.1007/s100380170088

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Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease

Autor: Junaid Shabbeer, Kenneth H. Astrin, Robert J. Desnick, Ali K. Topaloglu, Bingzheng Tong, Grace A. Ashley, Christine M. Eng

Publikováno v: Molecular Medicine. 5:806-811

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase α-galactosidase A (EC 3.2.1.22; α-Gal A). The nature of the molecular lesions in the α-Gal A gene in 30

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a07934f3997c5b2b78bd234c6343e73
https://doi.org/10.1007/bf03401993

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Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

Autor: Grace A. Ashley, Patricia Ashton-Prolla, C.M. Eng, Robert J. Desnick, Ricardo Flores Pires, Roberto Giugliani

Publikováno v: American Journal of Medical Genetics. 84:420-424

Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A). Affected males are reliably diagnosed by demonstration of deficient α-Gal A activity in plasma or leukocytes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9528d6822eb5670a10b8c3a144849c51
https://doi.org/10.1002/(sici)1096-8628(19990611)84:5<420::aid-ajmg6>3.0.co

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Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1

Autor: Robert J. Desnick, Grace A. Ashley, Christine M. Eng, Michele Caggana

Publikováno v: American Journal of Medical Genetics. 71:329-335

Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). A rapid, reliable, and universal linkage method was developed fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f7da8a200c2597a5e3a61d838acc2610
https://doi.org/10.1002/(sici)1096-8628(19970822)71:3<329::aid-ajmg14>3.0.co

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