Santiago Vernia
MRC Clinical Sciences Centre
46 papers found
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Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity
Download from www.molbiolcell.orgIdentification of a novel Pfkfb1 mRNA variant in rat fetal liver
Download from digital.csic.esMalin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
Download from www.tandfonline.comLafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy
Download from academic.oup.comA PTG variant contributes to a milder phenotype in Lafora disease
Download from doi.orgLafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
Download from link.springer.comImpaired autophagy in Lafora disease
Download from www.tandfonline.comLaforin, the most common protein mutated in Lafora disease, regulates autophagy
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