Literature DB >> 8012363

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

J K Ploos van Amstel1, R P Jansen, J G de Jong, B C Hamel, R A Wevers.   

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Year:  1994        PMID： 8012363     DOI： 10.1093/hmg/3.3.503

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  17 in total

1.  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

2.  SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.

Authors:  K M Madsen; L Hasholt; J Berger; S A Sørensen
Journal:  Clin Mol Pathol       Date:  1996-10

3.  The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Authors:  Susana Ferreira; Alberto Ortiz; Dominique P Germain; Miguel Viana-Baptista; António Caldeira-Gomes; Marta Camprecios; Maria Fenollar-Cortés; Ángel Gallegos-Villalobos; Diego Garcia; José Antonio García-Robles; Jesús Egido; Eduardo Gutiérrez-Rivas; José Antonio Herrero; Sebastián Mas; Raluca Oancea; Paloma Péres; Luis Manuel Salazar-Martín; Jesús Solera-Garcia; Helena Alves; Scott C Garman; João Paulo Oliveira
Journal:  Mol Genet Metab       Date:  2014-11-09       Impact factor: 4.797

4.  GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

Authors:  Zhe-Yi Dong; Qian Wang; Shu-Peng Lin; Pu Chen; Jiao-Na Liu; Shu-Wen Liu; Guang-Yan Cai; Xiang-Mei Chen; Quan Hong
Journal:  Ann Transl Med       Date:  2020-07

5.  The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

Authors:  Richie Khanna; Rebecca Soska; Yi Lun; Jessie Feng; Michelle Frascella; Brandy Young; Nastry Brignol; Lee Pellegrino; Sheela A Sitaraman; Robert J Desnick; Elfrida R Benjamin; David J Lockhart; Kenneth J Valenzano
Journal:  Mol Ther       Date:  2009-09-22       Impact factor: 11.454

6.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

7.  Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.

Authors:  Patrícia Varela; Gerson Carvalho; Renan Paulo Martin; João Bosco Pesquero
Journal:  Metab Brain Dis       Date:  2020-11-06       Impact factor: 3.584

8.  Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

Authors:  Satoshi Ishii; Hui-Hwa Chang; Kunito Kawasaki; Kayo Yasuda; Hui-Li Wu; Scott C Garman; Jian-Qiang Fan
Journal:  Biochem J       Date:  2007-09-01       Impact factor: 3.857

Review 9.  Fabry's disease: an example of cardiorenal syndrome type 5.

Authors:  Aashish Sharma; Marco Sartori; Jose J Zaragoza; Gianluca Villa; Renhua Lu; Elena Faggiana; Alessandra Brocca; Luca Di Lullo; Sandro Feriozzi; Claudio Ronco
Journal:  Heart Fail Rev       Date:  2015-11       Impact factor: 4.214

10.  Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Authors:  Kanako Sugawara; Kazuki Ohno; Seiji Saito; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2008-07-17       Impact factor: 3.172
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