Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O-Reference-Cited by-同舟云学术

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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Published:2012-03-14 Issue:9 Volume:20 Page:945-952
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Raducu Madalina,Baets Jonathan,Fano Oihane,Van Coster Rudy,Cruces Jesús

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201240.pdf

Reference22 articles.

1. Godfrey C, Foley AR, Clement E, Muntoni F : Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 2011; 21: 278–285.

2. Hewitt JE : Abnormal glycosylation of dystroglycan in human genetic disease. Biochim Biophys Acta 2009; 1792: 853–861.

3. Campbell KP : Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995; 80: 675–679.

4. Manya H, Chiba A, Yoshida A et al: Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci USA 2004; 101: 500–505.

5. Yoshida A, Kobayashi K, Manya H et al: Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001; 1: 717–724.

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3. Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy;Mechanism and Genetic Susceptibility of Neurological Disorders;2024

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