Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Twinkle colocalizes with mt...

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Bibliographic Details
Main Authors: Spelbrink, J, Li, F, Tiranti, V, Nikali, K, Yuan, Q, Tariq, M, Wanrooij, S, Garrido, N, Comi, G, Morandi, L, Santoro, L, Toscano, A, Fabrizi, G, Somer, H, Croxen, R, Beeson, D, Poulton, J, Suomalainen, A, Jacobs, H, Zeviani, M, Larsson, C
Format: Journal article
Language:English
Published: 2001