[HTML][HTML] Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies

E Le Rumeur - Bosnian journal of basic medical sciences, 2015 - ncbi.nlm.nih.gov
Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the
cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker …

Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges

V Arechavala-Gomeza, K Anthony… - Current gene …, 2012 - ingentaconnect.com
Duchenne muscular dystrophy (DMD) is the most common childhood neuromuscular
disorder. It is caused by mutations in the DMD gene that disrupt the open reading frame …

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

S Tuffery‐Giraud, C Béroud, F Leturcq… - Human …, 2009 - Wiley Online Library
UMD–DMD France is a knowledgebase developed through a multicenter academic effort to
provide an up‐to‐date resource of curated information covering all identified mutations in …

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

J Juan-Mateu, L Gonzalez-Quereda, MJ Rodriguez… - PloS one, 2015 - journals.plos.org
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …

L-arginine decreases inflammation and modulates the nuclear factor-κB/matrix metalloproteinase cascade in mdx muscle fibers

K Hnia, J Gayraud, G Hugon, M Ramonatxo… - The American journal of …, 2008 - Elsevier
Duchenne muscular dystrophy (DMD) is a lethal, X-linked disorder associated with
dystrophin deficiency that results in chronic inflammation, sarcolemma damage, and severe …

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy

S Cirak, L Feng, K Anthony, V Arechavala-Gomeza… - Molecular Therapy, 2012 - cell.com
We previously conducted a proof of principle; dose escalation study in Duchenne muscular
dystrophy (DMD) patients using the morpholino splice-switching oligonucleotide AVI-4658 …

Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with β-dystroglycan

GA Rezniczek, P Konieczny, B Nikolic… - The Journal of cell …, 2007 - rupress.org
In skeletal muscle, the cytolinker plectin is prominently expressed at Z-disks and the
sarcolemma. Alternative splicing of plectin transcripts gives rise to more than eight protein …

Non-immunogenic utrophin gene therapy for the treatment of muscular dystrophy animal models

Y Song, L Morales, AS Malik, AF Mead, CD Greer… - Nature medicine, 2019 - nature.com
The essential product of the Duchenne muscular dystrophy (DMD) gene is dystrophin, a rod-
like protein that protects striated myocytes from contraction-induced injury,. Dystrophin …

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

A Nicolas, C Lucchetti-Miganeh, RB Yaou… - Orphanet journal of rare …, 2012 - Springer
Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a
filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene …

Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy

A Holland, S Carberry… - Current Protein and …, 2013 - ingentaconnect.com
The largest human gene is represented by the X-chromosomal dystrophin gene of 2.4
million bases, which encodes for the membrane cytoskeletal protein dystrophin. The …