K
Katherine Fu
Researcher at Montreal Neurological Institute and Hospital
Publications - 3
Citations - 913
Katherine Fu is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Heteroplasmy & Mitochondrial DNA. The author has an hindex of 3, co-authored 3 publications receiving 898 citations.
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Journal ArticleDOI
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.
Journal ArticleDOI
A Novel Heteroplasmic tRNAleu(CUN) mtDNA Point Mutation in a Sporadic Patient With Mitochondrial Encephalomyopathy Segregates Rapidly in Skeletal Muscle and Suggests an Approach to Therapy
Katherine Fu,Rebecca Hartlen,Timothy Johns,Angela Genge,George Karpati,Eric A. Shoubridge,Eric A. Shoubridge +6 more
TL;DR: A novel mtDNA point mutation was detected in the tRNAleu(CUN) gene (G to A at position 12315) in a sporadic patient with chronic progressive external ophthalmoplegia, ptosis, limb weakness, sensorineural hearing loss and a pigmentary retinopathy.
Journal ArticleDOI
Gene Shifting: A Novel Therapy for Mitochondrial Myopathy
Tanja Taivassalo,Katherine Fu,Timothy Johns,Douglas L. Arnold,George Karpati,Eric A. Shoubridge,Eric A. Shoubridge +6 more
TL;DR: Data show that it is possible to reverse the molecular events that led to expression of metabolic myopathy and demonstrate the effectiveness of this form of 'gene shifting' therapy.