Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. (Q52579605)

3 May 2018

title

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. (English)

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3 May 2018

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R Kase

1

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3 May 2018

U Bierfreund

2

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3 May 2018

A Klein

3

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3 May 2018

T Kolter

4

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3 May 2018

K Utsumi

5

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3 May 2018

K Itoha

6

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3 May 2018

K Sandhoff

7

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3 May 2018

H Sakuraba

8

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3 May 2018

publication date

1 June 2000

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3 May 2018

number of pages

9

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Biochimica et Biophysica Acta

inferred from page(s)

published in

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3 May 2018

volume

1501

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3 May 2018

issue

2-3

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3 May 2018

page(s)

227-235

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3 May 2018

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

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An atypical variant of Fabry's disease in men with left ventricular hypertrophy

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Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

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Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

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Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6

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Identification of tyrosine 108 in coffee bean alpha-galactosidase as an essential residue for the enzyme activity

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Expression, glycosylation, and intracellular distribution of human beta-galactosidase in recombinant baculovirus-infected Spodoptera frugiperda cells

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Characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A using a baculovirus vector

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Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

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Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

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Different phenotypic expression in relatives with fabry disease caused by a W226X mutation

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The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

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7 January 2021

10.1016/S0925-4439(00)00024-7

Identifiers

DOI

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3 May 2018

PubMed ID

10838196

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3 May 2018