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Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1

31 Mar 2018

Abstract excerpt

OBJECTIVE: Defective mitochondrial function attributed to optic atrophy 1 (OPA1) mutations causes primarily optic atrophy and, less commonly, neurodegenerative syndromes. The pathomechanism by which OPA1 mutations trigger diffuse loss of neurons in some, but not all, patients is unknown. Here, we used a tractable induced pluripotent stem cell (iPSC)-based model to capture the biology of OPA1 haploinsufficiency in...

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PMID: 29604226
DOI: 10.1002/ana.25221

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