PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Rebekah K. Jobling , Mirna Assoum , Oleksandr Gakh , Susan Blaser , Julian A. Raiman , Cyril Mignot , Emmanuel Roze , Alexandra Dürr , Alexis Brice , Nicolas Lévy , Chitra Prasad , Tara Paton , Andrew D. Paterson , Nicole M. Roslin , Christian R. Marshall , Jean-Pierre Desvignes , Nathalie Roëckel-Trevisiol , Stephen W. Scherer , Guy A. Rouleau , André Mégarbané , Grazia Isaya , Valérie Delague , Grace Yoon; Brain. 2015 Mar 25. pii: awv057. [Epub ahead of print] DOI: http://dx.doi.org/10.1093/brain/awv057

In particular, this mutation impacts the maturation process of frataxin, the protein which is depleted in Friedreich ataxia.