Literature DB >> 14627679

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

D Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, W Van den Akker, S Kant, W B Dobyns, B Cormand, S Currier, B Hamel, B Talim, H Topaloglu, H G Brunner.   

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Year:  2003        PMID： 14627679      PMCID： PMC1735302          DOI： 10.1136/jmg.40.11.845

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  42 in total

1.  Differential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferase.

Authors:  Peng Zhang; Huaiyu Hu
Journal:  Glycobiology       Date:  2011-09-19       Impact factor: 4.313

2.  Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.

Authors:  Masaji Tachikawa; Motoi Kanagawa; Chih-Chieh Yu; Kazuhiro Kobayashi; Tatsushi Toda
Journal:  J Biol Chem       Date:  2012-01-24       Impact factor: 5.157

Review 3.  The congenital muscular dystrophies: recent advances and molecular insights.

Authors:  Jerry R Mendell; Daniel R Boué; Paul T Martin
Journal:  Pediatr Dev Pathol       Date:  2006 Nov-Dec

Review 4.  Immunobiology of Inherited Muscular Dystrophies.

Authors:  James G Tidball; Steven S Welc; Michelle Wehling-Henricks
Journal:  Compr Physiol       Date:  2018-09-14       Impact factor: 9.090

Review 5.  Malformations of cortical development and epilepsy.

Authors:  A James Barkovich; William B Dobyns; Renzo Guerrini
Journal:  Cold Spring Harb Perspect Med       Date:  2015-05-01       Impact factor: 6.915

Review 6.  The dystroglycanopathies: the new disorders of O-linked glycosylation.

Authors:  Paul T Martin
Journal:  Semin Pediatr Neurol       Date:  2005-09       Impact factor: 1.636

7.  Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

Authors:  Tobias Willer; Belén Prados; Juan Manuel Falcón-Pérez; Ingrid Renner-Müller; Gerhard K H Przemeck; Mark Lommel; Antonio Coloma; M Carmen Valero; Martin Hrabé de Angelis; Widmar Tanner; Eckhard Wolf; Sabine Strahl; Jesús Cruces
Journal:  Proc Natl Acad Sci U S A       Date:  2004-09-21       Impact factor: 11.205

8.  Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy.

Authors:  Peng Zhang; Yuan Yang; Joseph Candiello; Trista L Thorn; Noel Gray; Willi M Halfter; Huaiyu Hu
Journal:  Matrix Biol       Date:  2013-02-27       Impact factor: 11.583

9.  Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy.

Authors:  Huaiyu Hu; Joseph Candiello; Peng Zhang; Sherry L Ball; David A Cameron; Willi Halfter
Journal:  Mol Vis       Date:  2010-07-28       Impact factor: 2.367

Review 10.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501
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