نتایج جستجو برای: dystrophin related protein 2 gene drp2

تعداد نتایج: 4828568  

Journal: :Journal of Biomedicine and Biotechnology 2002
Kevin Culligan Kay Ohlendieck

Duchenne muscular dystrophy (DMD), the most common inherited neuromuscular disorder, is characterized by progressive muscle wasting and weakness. One third of Duchenne patients suffer a moderate to severe, nonprogressive form of mental retardation. Mutations in the DMD gene are thought to be responsible, with the shorter isoforms of dystrophin implicated in its molecular brain pathogenesis. It ...

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Journal: :The Biochemical journal 1993
M Luise C Presotto L Senter R Betto S Ceoldo S Furlan S Salvatori R A Sabbadini G Salviati

Dystrophin, the protein coded by the gene missing in Duchenne muscular dystrophy, is assumed to be a component of the membrane cytoskeleton of skeletal muscle. Like other cytoskeletal proteins in different cell types, dystrophin bound to sarcolemma membranes was found to be phosphorylated by endogenous protein kinases. The phosphorylation of dystrophin was activated by cyclic AMP, cyclic GMP, c...

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2012
Sue Fletcher Carl F. Adkin Penny Meloni Brenda Wong Francesco Muntoni Ryszard Kole Clayton Fragall Kane Greer Russell Johnsen Steve D. Wilton

Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy. Antisense oligomer-induced exon skipping can modify dystrophin gene expression so that a disease-associated dystrophin pre-mRNA is processed into a Becker muscula...

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Journal: :Biochimica et biophysica acta 2007
James M Ervasti

Duchenne muscular dystrophy is the most prevalent and severe form of human muscular dystrophy. Investigations into the molecular basis for Duchenne muscular dystrophy were greatly facilitated by seminal studies in the 1980s that identified the defective gene and its major protein product, dystrophin. Biochemical studies revealed its tight association with a multi-subunit complex, the so-named d...

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2012
Gaëlle Robin Christine Berthier Bruno Allard

Duchenne muscular dystrophy is a very severe muscle disease that is characterized by progressive skeletal muscle wasting. Duchenne muscular dystrophy is provoked by mutations in the gene encoding the protein dystrophin, which lead to the total absence of this protein in skeletal muscles. In normal skeletal muscle, dystrophin is located underneath the sarcolemma, and interacts with the F-actin c...

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Journal: :The Journal of Cell Biology 2008
Angela K. Peter Jamie L. Marshall Rachelle H. Crosbie

Mutations in the dystrophin gene cause Duchenne muscular dystrophy and result in the loss of dystrophin and the entire dystrophin-glycoprotein complex (DGC) from the sarcolemma. We show that sarcospan (SSPN), a unique tetraspanin-like component of the DGC, ameliorates muscular dystrophy in dystrophin-deficient mdx mice. SSPN stabilizes the sarcolemma by increasing levels of the utrophin-glycopr...

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Journal: :Nucleic Acid Therapeutics 2021

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease caused by frameshift or nonsense mutations in the DMD gene, resulting loss of dystrophin from muscle membranes. Exon skipping using splice-switching oligonucleotides (SSOs) restores reading frame pre-mRNA generating internally truncated but functional protein. To potentiate effective tissue-specific targeting SSOs, it essentia...

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2017
Marinos C. Dalakas

Duchenne muscular dystrophy (DMD), the most common form of all muscular dystrophies, is an X-linked disorder affecting approximately one in 5000 newborn boys.1 Patients experience difficulty in ambulation which steadily progresses to wheelchair confinement by the age of 12 and death between 25–30 years of age due to respiratory muscle weakness or cardiomyopathy. DMD is caused by mutations in th...

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Journal: :Molecular therapy : the journal of the American Society of Gene Therapy 2017
Apurva Sarathy Ryan D Wuebbles Tatiana M Fontelonga Ashley R Tarchione Lesley A Mathews Griner Dante J Heredia Andreia M Nunes Suzann Duan Paul D Brewer Tyler Van Ry Grant W Hennig Thomas W Gould Andrés E Dulcey Amy Wang Xin Xu Catherine Z Chen Xin Hu Wei Zheng Noel Southall Marc Ferrer Juan Marugan Dean J Burkin

Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by mutations in the dystrophin gene, resulting in a complete loss of the dystrophin protein. Dystrophin is a critical component of the dystrophin glycoprotein complex (DGC), which links laminin in the extracellular matrix to the actin cytoskeleton within myofibers and provides resistance to shear stresses during muscle activity....

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Journal: :Human molecular genetics 2010
Refik Kayali Frederic Bury McIver Ballard Carmen Bertoni

Permanent correction of gene defects is an appealing approach to the treatment of genetic disorders. The use of single-stranded oligodeoxynucleotides (ssODNs) has been demonstrated to induce single-point mutations in the dystrophin gene and to restore dystrophin expression in the skeletal muscle of models of Duchenne muscular dystrophy (DMD). Here we show that ssODNs made of peptide nucleic aci...

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