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Takahiro Tsukimura Selected Research

Galactosidases

5/2015A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
1/2015Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.
7/2014Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.
1/2013Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.
9/2012High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.
4/2012Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.
5/2011Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars.

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Takahiro Tsukimura Research Topics

Disease

16Fabry Disease (Fabry's Disease)
07/2015 - 04/2009
2Glycogen Storage Disease Type II (Pompe's Disease)
06/2011 - 01/2007
1Wilms Tumor (Wilm's Tumor)
05/2015
1Mucopolysaccharidoses
09/2013
1Chronic Kidney Failure (Chronic Renal Failure)
09/2012
1Tay-Sachs Disease
01/2011
1Sandhoff Disease (Sandhoff's Disease)
01/2011
1Mucopolysaccharidosis I (Hurler Syndrome)
09/2008

Drug/Important Bio-Agent (IBA)

7GalactosidasesIBA
05/2015 - 05/2011
5globotriaosyl lysosphingolipidIBA
07/2015 - 07/2010
5globotriaosylceramide (globotriosylceramide)IBA
05/2015 - 11/2009
3GlycosphingolipidsIBA
01/2015 - 01/2012
3Imino SugarsIBA
06/2011 - 04/2009
3alpha-Galactosidase (Beano)IBA
09/2010 - 04/2009
2AntibodiesIBA
05/2015 - 01/2015
2Biological Markers (Surrogate Marker)IBA
01/2015 - 07/2010
2Iduronidase (alpha-L-Iduronidase)IBA
09/2013 - 09/2008
1VimentinIBA
05/2015
1podocalyxinIBA
05/2015
1agalsidase betaFDA Link
01/2015
1Protein Isoforms (Isoforms)IBA
01/2015
11-deoxygalactonojirimycinIBA
07/2014
1Heparitin Sulfate (Heparan Sulfate)IBA
09/2013
1Glycoproteins (Glycoprotein)IBA
01/2012
1PolysaccharidesIBA
01/2012
1agalsidase alfaIBA
01/2012
1lysoganglioside G(M2)IBA
01/2011
1Hexosaminidase A (Hex A)IBA
01/2011
1GlycolipidsIBA
09/2010
1alpha-N-Acetylgalactosaminidase (N-Acetyl-alpha-D-Galactosaminidase)IBA
11/2009
1Proteins (Proteins, Gene)IBA
11/2009
1Mutant Proteins (Protein, Mutant)IBA
01/2007
1Nonsense Codon (Nonsense Mutation)IBA
01/2007
1alpha-Glucosidases (Acid Maltase)IBA
01/2007

Therapy/Procedure

4Enzyme Replacement Therapy
01/2015 - 11/2009
1Renal Dialysis (Hemodialysis)
09/2012