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Biochemical and Biophysical Research Communications 2014-05-02

Mitochondrial impairment observed in fibroblasts from South African Parkinson’s disease patients withparkinmutations

Celia van der Merwe, Ben Loos, Chrisna Swart, Craig Kinnear, Franclo Henning, Lize van der Merwe, Komala Pillay, Nolan Muller, Dan Zaharie, Lize Engelbrecht, Jonathan Carr, Soraya Bardien

文献索引:Biochem. Biophys. Res. Commun. 447(2) , 334-40, (2014)

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摘要

• Mitochondrial dysfunction observed in patients with parkin-null mutations. • Mitochondrial ATP levels were decreased. • Electron-dense vacuoles were observed in the patients. • Mitochondria from muscle biopsies appeared within normal limits. • One patient did not show these defects possibly due to compensatory mechanisms.

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