... gene gives rise to many dystrophin isoforms, of which multiple are expressed in the brain. The location of the mutation determines the number of dystrophin isoforms affected, and the absence thereof leads to behavioral and cognitive impairments. Even though behavioral studies have thoroughly...

...Andrea J. Arreguin; Zijian Shao; Holly Colognato ABSTRACT Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, resulting in the loss of dystrophin, a large cytosolic protein that links the cytoskeleton to extracellular matrix receptors in skeletal muscle. Aside from progressive...

...Dominique O. Riddell; John C. W. Hildyard; Rachel C. M. Harron; Natasha L. Hornby; Dominic J. Wells; Richard J. Piercy ABSTRACT Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease, caused by mutations in the dystrophin gene, characterised by cycles of muscle degeneration...

...Chady H. Hakim; Hsiao T. Yang; Matthew J. Burke; James Teixeira; Gregory J. Jenkins; N. Nora Yang; Gang Yao; Dongsheng Duan ABSTRACT Aged dystrophin-null canines are excellent models for studying experimental therapies for Duchenne muscular dystrophy, a lethal muscle disease caused by dystrophin...

...Naomi Teramoto; Hidetoshi Sugihara; Keitaro Yamanouchi; Katsuyuki Nakamura; Koichi Kimura; Tomoko Okano; Takanori Shiga; Taku Shirakawa; Masafumi Matsuo; Tetsuya Nagata; Masao Daimon; Takashi Matsuwaki; Masugi Nishihara ABSTRACT Dystrophin, encoded by the DMD gene on the X chromosome, stabilizes...

.... , Fardeau , M. and Ben Hamida , M. ( 1990 ). Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy . Neurology   40 , 1903 . 10.1212/WNL.40.12.1903 Chan , J. H. P. , Lim , S. and Wong , W. S. F. ( 2006 ). Antisense...

..., the Dp71 dystrophin. To determine for the first time whether Dp71 loss could affect cerebellar physiology and functions, we have used patch-clamp electrophysiological recordings in acute cerebellar slices and a cerebellum-dependent behavioral test battery addressing cerebellum-dependent motor and non-motor...

...Tingting Sui; Yeh Siang Lau; Di Liu; Tingjun Liu; Li Xu; Yandi Gao; Liangxue Lai; Zhanjun Li; Renzhi Han ABSTRACT Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disorder caused by mutations in the dystrophin gene, with an incidence of 1 in 3500 in new male births. Mdx mice...

...Joe W. McGreevy; Chady H. Hakim; Mark A. McIntosh; Dongsheng Duan Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly promising therapeutic strategy is to replace...

... the modifications of these biomarkers in severely affected dogs and humans. In this context, the GRMD dog is a favorable model to study inter-individual heterogeneity, because all the dogs share the same mutation in the dystrophin gene, the same environmental conditions and the same clinical management. It is thus...

... distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/3.0 ), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. HDAC S1P THI dys Dystrophin mdx...