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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 cases presenting with classic eye disease versus syndromic parkinsonism.

More information Original publication

DOI

10.1002/ana.25221

Type

Journal article

Publisher

Wiley-Blackwell, John Wiley & Sons

Publication Date

05/2018

Volume

83(5)

Pages

915 - 925

Addresses

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032926/#!po=5.55556

Keywords

Stem Cells Parkinsons