Literature DB >> 5466114

Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.

G Romeo, B R Migeon.   

Abstract

Skin fibroblasts from a patient with Fabry's disease showed deficient activity of alpha-galactosidase. Fibroblasts from his mother and sister had two distinct clonal populations, one with enzymatic activity and the other enzyme deficient. This provides evidence of genetic inactivation at the alpha-galactosidase locus and makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls.

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Year:  1970        PMID： 5466114     DOI： 10.1126/science.170.3954.180

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  33 in total

1.  Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity.

Authors:  C R Kaneski; K L Oliver; J M Quirk
Journal:  In Vitro Cell Dev Biol       Date:  1991-04

2.  Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

Authors:  A J Kirkilionis; D C Riddell; M W Spence; R G Fenwick
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.

Authors:  R C Yen; W B Adams; C Lazar; M A Becker
Journal:  Proc Natl Acad Sci U S A       Date:  1978-01       Impact factor: 11.205

4.  Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).

Authors:  G Romeo; A Rinaldi; F Urbano; G Filippi
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

Review 5.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

6.  Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells.

Authors:  N Belyaev; A M Keohane; B M Turner
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

7.  Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Authors:  I Redonnet-Vernhet; J K Ploos van Amstel; R P Jansen; R A Wevers; R Salvayre; T Levade
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

8.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

9.  A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.

Authors:  N Miyamura; E Araki; K Matsuda; R Yoshimura; N Furukawa; K Tsuruzoe; T Shirotani; H Kishikawa; K Yamaguchi; M Shichiri
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

10.  Fabry's disease: heterozygote detection by hair root analysis.

Authors:  T Grimm; T F Wienker; H H Ropers
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132
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