Galactose Stabilizes Various Missense Mutants of α-Galactosidase in Fabry Disease

Toshika Okumiya, Shoken Ishii, Takeshi Takenaka, +4

Biochemical and Biophysical Research Communications

BiologyBiosynthesisFabry DiseaseGeneticsPathogenesis +4

Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

Toshika Okumiya, Marian A. Kroos, Laura Van de Vliet, +3

Molecular Genetics and Metabolism

Protein GlycosylationCellular EnzymologyBiochemistryNatural SciencesGlycobiology +12

High Incidence of Thrombosis in Fabry's Disease.

Kouichi Utsumi, Naomasa Yamamoto, Ryoichi Kase, +6

Internal Medicine

Thrombotic AccidentsGenetic EpidemiologyVascular MalformationPathologyThrombosis +17

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Toshika Okumiya, J. L. M. Keulemans, Marian A. Kroos, +5

Molecular Genetics and Metabolism

Laboratory HematologyGranulocyteMedicineBioanalysisImmunology +9

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis, +43

Human Mutation

?-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

Toshika Okumiya, Satoshi Ishii, Ryoichi Kase, +3

Human Genetics

Fabry DiseaseMendelian DisorderGenetic DisorderGeneticsPathogenesis +6

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Shingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, +6

Molecular Genetics and Metabolism

DiabetesGlycobiologyPediatricsInherited Metabolic DiseaseHigh Frequency +4

Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”

Youichi Tajima, Fumiko Matsuzawa, Sei-ichi Aikawa, +8

Journal of Human Genetics

Pompe DiseaseAutoimmune DiseaseBiochemistryPathogenesisGlycobiology +4

Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes

Fumiko Matsuzawa, Sei-ichi Aikawa, Hirofumi Doi, +2

Human Genetics

Fabry DiseaseBiochemical PhenotypesStructural ChangesGlycobiologyPathology +3

Aggregation of the Inactive Form of Human α-Galactosidase in the Endoplasmic Reticulum

Ryoichi Kase, Toshika Okumiya, Hitoshi Sakuraba, +1

Biochemical and Biophysical Research Communications

Human α-GalactosidaseGlycosylationBiochemistryNatural SciencesSecretory Pathway +10