Article

Human iPSC-derived cerebral organoids model features of Leigh Syndrome and reveal abnormal corticogenesis

2020-04-22

Abstract excerpt

<h4>Summary</h4> Leigh syndrome (LS) is a rare, inherited neurometabolic disorder that presents with bilateral brain lesions, caused by defects in the mitochondrial respiratory chain and associated nuclear-encoded proteins. We generated iPSCs from three patient-derived LS fibroblast lines and identified, by whole-exome and mitochondrial sequencing, unreported mutations in pyruvate dehydrogenase (GM0372, PDH; GM13...

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Literature Corpus work: bd0b2cea-35b9-5c49-8ecc-9c5475620a53
DOI: 10.1101/2020.04.21.054361

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