The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations-Reference-Cited by-同舟云学术

The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations

Published:2013-12-02 Issue:2 Volume:35 Page:257-264
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vulin Adeline¹,Wein Nicolas¹,Strandjord Dana M.²,Johnson Eric K.¹,Findlay Andrew R.¹,Maiti Baijayanta³,Howard Michael T.⁴,Kaminoh Yuuki J.¹,Taylor Laura E.¹,Simmons Tabatha R.¹,Ray Will C.⁵,Montanaro Federica¹,Ervasti Jim M.²,Flanigan Kevin M.¹⁶

Affiliation:

1. The Center for Gene Therapy; The Research Institute at Nationwide Children's Hospital; Columbus Ohio

2. Department of Biochemistry; Molecular Biology and Biophysics; University of Minnesota; Minneapolis Minnesota

3. The Department of Neurology; Washington University School of Medicine; St. Louis Missouri

4. The Department of Human Genetics; The University of Utah; Salt Lake City Utah

5. The Department of Mathematical Medicine; The Research Institute at Nationwide Children's Hospital; Columbus Ohio

6. The Departments of Pediatrics and Neurology; The Ohio State University; Columbus Ohio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22479/fullpdf

Reference52 articles.

1. Flexible hinges in dystrophin;Ahmed;Biochem Soc Trans,1998

2. A cluster of basic repeats in the dystrophin rod domain binds F-actin through an electrostatic interaction;Amann;J Biol Chem,1998

3. An intact cysteine-rich domain is required for dystrophin function;Bies;J Clin Invest,1992

4. Protein folding and modification in the mammalian endoplasmic reticulum;Braakman;Annu Rev Biochem,2011

5. Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains;Brenman;Cell,1996

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