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A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach
Discussion With new developments in computational power and data availability, a growing amount of research is using a systems biology approach to understand pathogenesis and progression of disease. Effective and integrated in vitro and in silico models could inform biological phenomena, even without the need of a living subject. For instance, over the last few decades, collagen hydrogel with muscle derived cells (CHMDCs) have promised to revolutionize in vitro experiments and tissue engineering. For CHMDCs to reach the envisioned use, verification by use of mathematical simulations are needed. Recently while examining sha...
Source: PLOS Currents Muscular Dystrophy - February 16, 2018 Category: Neurology Authors: Matthew Houston Source Type: research

Full‐length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells
The protein dysferlin is abundantly expressed in skeletal and cardiac muscles, where its main function is membrane repair. Mutations in the dysferlin gene are involved in two autosomal recessive muscular dystrophies: Miyoshi myopathy and limb‐girdle muscular dystrophy type 2B. Development of effective therapies remains a great challenge. Strategies to repair the dysferlin gene by skipping mutated exons, using antisense oligonucleotides (AONs), may be suitable only for a subset of mutations, while cell and gene therapy can be extended to all mutations. AON‐treated blood‐derived CD133+ stem cells isolated from patients...
Source: FEBS Journal - October 8, 2013 Category: Research Authors: Mirella Meregalli, Claire Navarro, Clementina Sitzia, Andrea Farini, Erica Montani, Nicolas Wein, Paola Razini, Cyriaque Beley, Letizia Cassinelli, Daniele Parolini, Marzia Belicchi, Dario Parazzoli, Luis Garcia, Yvan Torrente Tags: Original Article Source Type: research

P.9.3 Repair of mutant nebulin transcripts by exon exchange
The nebulin gene (NEB) has 183 exons encoding transcripts up to 26kb in length. Mutations found in NEB are dispersed throughout the gene. Mutations cause autosomal recessive nemaline myopathy, distal myopathy and core-rod myopathy, for which no therapy is available. The size of NEB limits the options of gene therapy development. Thus, our research has focused on methods correcting the mutation carrying transcripts. The exon exchange method can be developed to exchange a mutated exon by spliceosome mediated RNA trans-splicing occurring between the target pre-mRNA and a carefully designed therapy molecule, PTM (Pre-Trans-spl...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: J. Laitila, J.J. Dowling, K. Pelin Source Type: research

Full‐Length Dysferlin Expression Driven by Engineered Human Dystrophic Blood‐Derived CD133+ Stem Cells
This article is protected by copyright. All rights reserved.
Source: FEBS Journal - September 13, 2013 Category: Research Authors: Mirella Meregalli, Claire Navarro, Clementina Sitzia, Andrea Farini, Erica Montani, Nicolas Wein, Paola Razini, Cyriaque Beley, Letizia Cassinelli, Daniele Parolini, Marzia Belicchi, Dario Parazzoli, Luis Garcia, Yvan Torrente Tags: Original Article Source Type: research

P.9.3 Repair of mutant nebulin transcripts by exon exchange
The nebulin gene (NEB) has 183 exons encoding transcripts up to 26kb in length. Mutations found in NEB are dispersed throughout the gene. Mutations cause autosomal recessive nemaline myopathy, distal myopathy and core-rod myopathy, for which no therapy is available. The size of NEB limits the options of gene therapy development. Thus, our research has focused on methods correcting the mutation carrying transcripts. The exon exchange method can be developed to exchange a mutated exon by spliceosome mediated RNA trans-splicing occurring between the target pre-mRNA and a carefully designed therapy molecule, PTM (Pre-Trans-spl...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J. Laitila, J.J. Dowling, K. Pelin Source Type: research