Title |
Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy
|
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Published in |
Genome Medicine, October 2013
|
DOI | 10.1186/gm498 |
Pubmed ID | |
Authors |
Chantal A Mutsaers, Douglas J Lamont, Gillian Hunter, Thomas M Wishart, Thomas H Gillingwater |
Abstract |
Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing the need for robust and sensitive clinical trial platforms for evaluating their effectiveness in human patient cohorts. Given that most clinical trials for SMA are likely to involve young children, there is a need for validated molecular biomarkers to assist with monitoring disease progression and establishing the effectiveness of therapies being tested. Proteomics technologies have recently been highlighted as a potentially powerful tool for such biomarker discovery. |
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Geographical breakdown
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Demographic breakdown
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