<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Chandrasekharan, K.</style></author><author><style face="normal" font="default" size="100%">Yoon, J. H.</style></author><author><style face="normal" font="default" size="100%">Xu, Y.</style></author><author><style face="normal" font="default" size="100%">deVries, S.</style></author><author><style face="normal" font="default" size="100%">Camboni, M.</style></author><author><style face="normal" font="default" size="100%">Janssen, P. M.</style></author><author><style face="normal" font="default" size="100%">Ajit Varki</style></author><author><style face="normal" font="default" size="100%">Martin, P. T.</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy</style></title><secondary-title><style face="normal" font="default" size="100%">Sci Transl Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science translational medicine</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animal/*genetics/*pathology</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Duchenne/*genetics/*pathology</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Inbred mdx</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Mixed Function Oxygenases/*genetics</style></keyword><keyword><style  face="normal" font="default" size="100%">Muscular Dystrophy</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutant Strains</style></keyword><keyword><style  face="normal" font="default" size="100%">Severity of Illness Index</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Jul 28</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/20668298</style></url></web-urls></urls><number><style face="normal" font="default" size="100%">42</style></number><edition><style face="normal" font="default" size="100%">2010/07/30</style></edition><volume><style face="normal" font="default" size="100%">2</style></volume><pages><style face="normal" font="default" size="100%">42ra54</style></pages><isbn><style face="normal" font="default" size="100%">1946-6242 (Electronic)19</style></isbn><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;During the evolution of humans, an inactivating deletion was introduced in the CMAH (cytidine monophosphate-sialic acid hydroxylase) gene, which eliminated biosynthesis of the common mammalian sialic acid N-glycolylneuraminic acid from all human cells. We found that this human-specific change in sialylation capacity contributes to the marked discrepancy in phenotype between the mdx mouse model for Duchenne muscular dystrophy (DMD) and the human disease. When compared to human patients with DMD, mdx mice show reduced severity or slower development of clinically relevant disease phenotypes, despite lacking dystrophin protein in almost all muscle cells. This is especially true for the loss of ambulation, cardiac and respiratory muscle weakness, and decreased life span, all of which are major phenotypes contributing to DMD morbidity and mortality. These phenotypes occur at an earlier age or to a greater degree in mdx mice that also carry a human-like mutation in the mouse Cmah gene, possibly as a result of reduced strength and expression of the dystrophin-associated glycoprotein complex and increased activation of complement. Cmah-deficient mdx mice are a small-animal model for DMD that better approximates the human glycome and its contributions to muscular dystrophy.&lt;/p&gt;</style></abstract><work-type><style face="normal" font="default" size="100%">Research Support, N.I.H., Extramural</style></work-type><notes><style face="normal" font="default" size="100%">&lt;p&gt;&lt;span role=&quot;menubar&quot;&gt;Sci Transl Med.&lt;/span&gt;&amp;nbsp;2010 Jul 28;2(42):42ra54. doi: 10.1126/scitranslmed.3000692.&amp;nbsp;&lt;/p&gt;</style></notes><custom2><style face="normal" font="default" size="100%">2950110</style></custom2><auth-address><style face="normal" font="default" size="100%">Center for Gene Therapy, Research Institute at Nationwide Children&#039;s Hospital, 700 Children&#039;s Drive, Columbus, OH 43205, USA.</style></auth-address></record></records></xml>