<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="6.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Gil-Borlado, MC.</style></author><author><style face="normal" font="default" size="100%">González-Hoyuela, M.</style></author><author><style face="normal" font="default" size="100%">Blázquez, A.</style></author><author><style face="normal" font="default" size="100%">García-Silva, MT.</style></author><author><style face="normal" font="default" size="100%">Gabaldón, T.</style></author><author><style face="normal" font="default" size="100%">Manzanares, J.</style></author><author><style face="normal" font="default" size="100%">Vara, J.</style></author><author><style face="normal" font="default" size="100%">Martín, MA.</style></author><author><style face="normal" font="default" size="100%">Seneca, S.</style></author><author><style face="normal" font="default" size="100%">Arenas, J.</style></author><author><style face="normal" font="default" size="100%">Ugalde, C.</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.</style></title><secondary-title><style face="normal" font="default" size="100%">Mitochondrion</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2009</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Sep</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://dx.doi.org/10.1016/j.mito.2009.04.00</style></url></web-urls></urls><number><style face="normal" font="default" size="100%">5</style></number><volume><style face="normal" font="default" size="100%">9</style></volume><pages><style face="normal" font="default" size="100%">299–305</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Mutations in the assembly chaperone BCS1L constitute a major cause of mitochondrial complex III deficiency. We studied the presence of BCS1L mutations in a complex III-deficient patient with metabolic acidosis, liver failure, and tubulopathy. A previously reported mutation, p.R56X, was identified in one BCS1L allele, and two novel heterozygous mutations, g.1181A&gt;G and g.1164C&gt;G, were detected in the second allele. The g.1181A&gt;G mutation generated an alternative splicing site in the BCS1L transcript, causing a 19-nucleotides deletion in its 5'UTR region. Decreased BCS1L mRNA and protein levels, and a respiratory chain complex III assembly impairment, determine a pathogenic role for the novel BCS1L mutations.</style></abstract></record></records></xml>
