Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Graham, LC, Llavero Hurtado, M and Wishart, TM (2016) Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation. Expert Review of Proteomics, 13 (7). pp. 659-671.

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Abstract

Introduction: Proteomic techniques offer insights into the molecular perturbations occurring in muscular-dystrophies (MD). Revisiting published datasets can highlight conserved downstream molecular alterations, which may be worth re-assessing to determine whether their experimental manipulation is capable of modulating disease severity.

Areas covered: Here, we review the MD literature, highlighting conserved molecular insights warranting mechanistic investigation for therapeutic potential. We also describe a workflow currently proving effective for efficient identification of biomarkers & therapeutic targets in other neurodegenerative conditions, upon which future MD proteomic investigations could be modelled.

Expert commentary: Studying disease models can be useful for identifying biomarkers and model specific degenerative cascades, but rarely offer translatable mechanistic insights into disease pathology. Conversely, direct analysis of human samples undergoing degeneration presents challenges derived from complex chronic degenerative molecular processes. This requires a carefully planed & reproducible experimental paradigm accounting for patient selection through to grouping by disease severity and ending with proteomic data filtering and processing.

Item Type: Article
Additional Information: This is an Accepted Manuscript of an article to be published by Taylor & Francis in Expert Review of Proteomics; http://www.tandfonline.com/toc/ieru20/current
Uncontrolled Keywords: proteomics; muscular dystrophy; inherited neuromuscular disease; Duchenne muscular dystrophy; myotonic dystrophy; facioscapulohumeral muscular dystrophy; limb-girdle muscular dystrophy; Emery-Dreifuss; collagen VI myopathies
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine and Health Sciences > Institute for Science and Technology in Medicine
Depositing User: Symplectic
Date Deposited: 17 Jun 2016 09:25
Last Modified: 10 Apr 2019 11:38
URI: http://eprints.keele.ac.uk/id/eprint/1895

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