Eric Shoubridge
professor
Neurology and Neurosurgery
McGill University
Canada
Biography
Professor
Research Interest
Mitochondrial genetics, mitochondrial diseases
Publications
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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I.
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Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion. Cuillerier A, Honarmand S, Cadete VJJ, Ruiz M, Forest A, Deschênes S, Beauchamp C; LSFC Consortium, Charron G, Rioux JD, Des Rosiers C, Shoubridge EA, Burelle Y.
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Mitochondrial Replacement Therapy: The Road to the Clinic in Canada. Knoppers BM, Leader A, Hume S, Shoubridge EA, Isasi R, Noohi F, Ogbogu U, Ravitsky V, Kleiderman E.
