Article
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease.
British journal of pharmacology - 1 Nov 2012
Garrido-Maraver Juan, Cordero Mario D, Moñino Irene Domínguez, Pereira-Arenas Sheila, Lechuga-Vieco Ana V, Cotán David, De la Mata Mario, Oropesa-Ávila Manuel, De Miguel Manuel, Bautista Lorite Juan, Rivas Infante Eloy, Alvarez-Dolado Manuel, Navas Plácido, Jackson Sandra, Francisci Silvia, Sánchez-Alcázar José A
Abstract excerpt
BACKGROUND AND PURPOSE: MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disease most usually caused by point mutations in tRNA genes encoded by mitochondrial DNA (mtDNA). Approximately 80% of cases of MELAS syndrome are associated with a m.3243A > G mutation in the MT-TL1 gene, which encodes the mitochondrial tRNALeu (UUR). Currently, no effective treatments...
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