iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.

Mutations in PANK2 lead to neurodegeneration with brain iron accumulation. PANK2 has a role in the biosynthesis of coenzyme A (CoA) from dietary vitamin B5, but the neuropathological mechanism and reasons for iron accumulation remain unknown. In this study, atypical patient-derived fibroblasts were...

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Bibliographic Details
Main Authors: Charles Arber, Plamena R Angelova, Sarah Wiethoff, Yugo Tsuchiya, Francesca Mazzacuva, Elisavet Preza, Kailash P Bhatia, Kevin Mills, Ivan Gout, Andrey Y Abramov, John Hardy, James A Duce, Henry Houlden, Selina Wray
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0184104

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https://doi.org/10.1371/journal.pone.0184104

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