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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. Jobling RK, et al. Among authors: gakh o. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25. Brain. 2015. PMID: 25808372 Free PMC article.
Mitochondrial processing peptidases.
Gakh O, Cavadini P, Isaya G. Gakh O, et al. Biochim Biophys Acta. 2002 Sep 2;1592(1):63-77. doi: 10.1016/s0167-4889(02)00265-3. Biochim Biophys Acta. 2002. PMID: 12191769 Free article. Review.
39 results