Literature DB >> 7951217

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.

C Meaney1, L C Blanch, C P Morris.   

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Year:  1994        PMID： 7951217     DOI： 10.1093/hmg/3.6.1019

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


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  9 in total

1.  Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease.

Authors:  Jean-Michel Itier; Gwénaëlle Ret; Sandra Viale; Lindsay Sweet; Dinesh Bangari; Anne Caron; Françoise Le-Gall; Bernard Bénichou; John Leonard; Jean-François Deleuze; Cécile Orsini
Journal:  J Inherit Metab Dis       Date:  2014-05-22       Impact factor: 4.982

2.  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

3.  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

4.  Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.

Authors:  Carmen Valbuena; Elísio Carvalho; Manuela Bustorff; Mariana Ganhão; Sandra Relvas; Rosete Nogueira; Fátima Carneiro; João Paulo Oliveira
Journal:  Virchows Arch       Date:  2008-09-04       Impact factor: 4.064

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

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

6.  Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Authors:  Ozlem Goker-Alpan; Michael J Gambello; Gustavo H B Maegawa; Khan J Nedd; Daniel J Gruskin; Larry Blankstein; Neal J Weinreb
Journal:  JIMD Rep       Date:  2015-08-25

7.  Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.

Authors:  Cristina Chimenti; Nazha Hamdani; Nicky M Boontje; Francesco DeCobelli; Antonio Esposito; Jean G F Bronzwaer; Ger J M Stienen; Matteo A Russo; Walter J Paulus; Andrea Frustaci; Jolanda van der Velden
Journal:  Am J Pathol       Date:  2008-05-08       Impact factor: 4.307

8.  Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.

Authors:  Irene M Lelieveld; Anna Böttcher; Julia B Hennermann; Michael Beck; Andreas Fellgiebel
Journal:  PLoS One       Date:  2015-09-04       Impact factor: 3.240

9.  Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Authors:  Frits A Wijburg; Bernard Bénichou; Daniel G Bichet; Lorne A Clarke; Gabriela Dostalova; Alejandro Fainboim; Andreas Fellgiebel; Cassiano Forcelini; Kristina An Haack; Robert J Hopkin; Michael Mauer; Behzad Najafian; C Ronald Scott; Suma P Shankar; Beth L Thurberg; Camilla Tøndel; Anna Tylki-Szymańska; Uma Ramaswami
Journal:  PLoS One       Date:  2015-05-08       Impact factor: 3.240
  9 in total

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