Literature DB >> 15121789

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, F Muntoni.   

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Year:  2004        PMID： 15121789      PMCID： PMC1735772          DOI： 10.1136/jmg.2003.013870

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


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  81 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

Review 2.  Animal models of muscular dystrophy.

Authors:  Rainer Ng; Glen B Banks; John K Hall; Lindsey A Muir; Julian N Ramos; Jacqueline Wicki; Guy L Odom; Patryk Konieczny; Jane Seto; Joel R Chamberlain; Jeffrey S Chamberlain
Journal:  Prog Mol Biol Transl Sci       Date:  2012       Impact factor: 3.622

3.  FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Authors:  Xiaona Fu; Haipo Yang; Cuijie Wei; Hui Jiao; Shuo Wang; Yanling Yang; Chunxi Han; Xiru Wu; Hui Xiong
Journal:  J Hum Genet       Date:  2016-07-21       Impact factor: 3.172

Review 4.  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

5.  An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Authors:  Cristina Dias; Murat Sincan; Praveen F Cherukuri; Rosemarie Rupps; Yan Huang; Hannah Briemberg; Kathryn Selby; James C Mullikin; Thomas C Markello; David R Adams; William A Gahl; Cornelius F Boerkoel
Journal:  Hum Mutat       Date:  2012-02-28       Impact factor: 4.878

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.  Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.

Authors:  Paul T Martin; G Diane Shelton; Peter J Dickinson; Beverly K Sturges; Rui Xu; Richard A LeCouteur; Ling T Guo; Robert A Grahn; Harriet P Lo; Kathryn N North; Richard Malik; Eva Engvall; Leslie A Lyons
Journal:  Neuromuscul Disord       Date:  2008-11-05       Impact factor: 4.296

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.  Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer.

Authors:  Alison K Esser; Michael R Miller; Qin Huang; Melissa M Meier; Daniel Beltran-Valero de Bernabé; Christopher S Stipp; Kevin P Campbell; Charles F Lynch; Brian J Smith; Michael B Cohen; Michael D Henry
Journal:  J Biol Chem       Date:  2012-12-06       Impact factor: 5.157

10.  B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I.

Authors:  Paul J Thomas; Rui Xu; Paul T Martin
Journal:  Am J Pathol       Date:  2016-09       Impact factor: 4.307
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