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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Autor: Desai, R., Frazier, A.E., Durigon, R., Patel, H., Jones, A.W., Rosa, I. Dalla, Lake, N.J., Compton, A.G., Mountford, H.S., Tucker, E.J., Mitchell, A.L.R., Jackson, D., Sesay, A., Re, M. Di, Heuvel, L.P.W.J. van den, Burke, D., Francis, D., Lunke, S., McGillivray, G., Mandelstam, S., Mochel, F., Keren, B., Jardel, C., Turner, A.M., Andrews, P. Ian, Smeitink, J.A.M., Spelbrink, J.N., Heales, S.J., Kohda, M., Ohtake, A., Murayama, K., Okazaki, Y., Lombes, A., Holt, I.J., Thorburn, D.R., Spinazzola, A.

Publikováno v: Brain, 140, 1595-1610
Brain
Brain, 140, 6, pp. 1595-1610

Mitochondrial DNA dysfunction causes a range of neurological diseases. Desai, Frazier et al. show that deletions in the ATAD3 gene cluster create chimeric proteins that are associated with cerebellar defects, mitochondrial DNA disorganisation and per

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