16 results for author:"Reuser A.J.J." in Literature citations
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| Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hermans M.M.P., van Leenen D., Kroos M.A., Beesley C.E., Van der Ploeg A.T., Sakuraba H., Wevers R., Kleijer W.J., Michelakakis H., Kirk E.P. et al. Hum. Mutat. 23:47-56(2004) · UniProtKB (1) |
| Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene. Kroos M.A., van Leenen D., Verbiest J., Reuser A.J.J., Hermans M.M.P. Clin. Genet. 53:379-382(1998) · UniProtKB (1) |
| Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hermans M.M.P., Kroos M.A., Smeitink J.A.M., van der Ploeg A.T., Kleijer W.J., Reuser A.J.J. Hum. Mutat. 11:209-215(1998) · UniProtKB (1) |
| Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. Keulemans J.L.M., Reuser A.J.J., Kroos M.A., Willemsen R., Hermans M.M.P., van den Ouweland A.M.W., de Jong J.G.N., Wevers R.A., Renier W.O., Schindler D. et al. J. Med. Genet. 33:458-464(1996) · UniProtKB (1) |
| Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Verheij C., Bakker C.E., de Graaff E., Keulemans J., Willemsen R., Verkerk A.J.M.H., Galjaard H., Reuser A.J.J., Hoogeveen A.T., Oostra B.A. Nature 363:722-724(1993) · UniProtKB (1) |
| The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks. Hermans M.M.P., Svetkey L.P., Oostra B.A., Chen Y.T., Reuser A.J.J. Genomics 16:300-301(1993) · UniProtKB (1) |
| Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. Hermans M.M.P., Wisselaar H.A., Kroos M.A., Oostra B.A., Reuser A.J.J. Biochem. J. 289:681-686(1993) · UniProtKB (1) |
| Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Hermans M.M.P., Kroos M.A., de Graaff E., Oostra B.A., Reuser A.J.J. Hum. Mutat. 2:268-273(1993) · UniProtKB (1) |
| The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Hermans M.M.P., de Graaff E., Kroos M.A., Wisselaar H.A., Willemsen R., Oostra B.A., Reuser A.J.J. Biochem. J. 289:687-693(1993) · UniProtKB (1) |
| The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Hermans M.M.P., de Graaff E., Kroos M.A., Mohkamsing S., Eussen B.J., Joosse M., Willemsen R., Kleijer W.J., Oostra B.A., Reuser A.J.J. Hum. Mol. Genet. 3:2213-2218(1994) · UniProtKB (1) |
| Characterization of FMR1 proteins isolated from different tissues. Verheij C., de Graaff E., Bakker C.E., Willemsen R., Willems P.J., Meijer N., Galjaard H., Reuser A.J.J., Oostra B.A., Hoogeveen A.T. Hum. Mol. Genet. 4:895-901(1995) · UniProtKB (1) · Mapped (11) |
| Glycogenosis type II (acid maltase deficiency). Reuser A.J.J., Kroos M.A., Hermans M.M.P., Bijvoet A.G.A., Verbeet M.P., van Diggelen O.P., Kleijer W.J., van der Ploeg A.T. Muscle Nerve 3:S61-S69(1995) · UniProtKB (1) |
| Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. Hoefsloot L.H., Hoogeveen-Westerveld M., Kroos M.A., van Beeumen J., Reuser A.J.J., Oostra B.A. EMBO J. 7:1697-1704(1988) · UniProtKB (1) |
| Characterization of the human lysosomal alpha-glucosidase gene. Hoefsloot L.H., Hoogeveen-Westerveld M., Reuser A.J.J., Oostra B.A. Biochem. J. 272:493-497(1990) · UniProtKB (1) |
| Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Hermans M.M.P., de Graaff E., Kroos M.A., Wisselaar H.A., Oostra B.A., Reuser A.J.J. Biochem. Biophys. Res. Commun. 179:919-926(1991) · UniProtKB (1) |
| Human lysosomal alpha-glucosidase. Characterization of the catalytic site. Hermans M.M.P., Kroos M.A., van Beeumen J., Oostra B.A., Reuser A.J.J. J. Biol. Chem. 266:13507-13512(1991) · UniProtKB (1) |