I
I. De Bie
Researcher at Montreal Neurological Institute and Hospital
Publications - 1
Citations - 593
I. De Bie is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Cytochrome c oxidase & Complementation. The author has an hindex of 1, co-authored 1 publications receiving 583 citations.
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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
Zhiqing Zhu,Jianbo Yao,T.A. Johns,Katherine Fu,I. De Bie,C. Macmillan,Andrew P. Cuthbert,Robert F. Newbold,J.-C. Wang,Mario Chevrette,Garry K. Brown,Ruth M. Brown,Eric A. Shoubridge,Eric A. Shoubridge +13 more
TL;DR: Analysis of a candidate gene (SURF1) of unknown function revealed several mutations that suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease.