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Research
Latest papers
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Human mutation · 2017
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
Neurogenetics · 2014
Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice.
Genes & development · 2005
Latest funding
- $906,526
RNA-binding proteins and mitochondrial disease
CIHR · 2024 · Nominated PI
- $822,376
Role of the mitochondrial carrier family protein SLC25A46 in mitochondrial dynamics and early onset neurodegenerative diseases
CIHR · 2021 · Nominated PI
- $730,576
Functional analysis of mitochondrial-endoplasmic reticulum contact sites
CIHR · 2020 · Nominated PI
3 publications.
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
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran LT, Shoubridge E, van der Knaap MS, Braverman N, Bernard G
Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice.
Liu X, Jiang N, Hughes B, Bigras E, Shoubridge E, Hekimi S
RNA-binding proteins and mitochondrial disease
Principal investigators: Shoubridge, Eric A
Keywords: Endonuclease Activity; Leigh Syndrome; Mitochondrial Disease; Mitochondrial Gene Expression; Neurodevelopmental Disorders; Posttranscriptional Gene Regulation; Rna Processing; Rna-Binding Proteins
Role of the mitochondrial carrier family protein SLC25A46 in mitochondrial dynamics and early onset neurodegenerative diseases
Principal investigators: Shoubridge, Eric A
Keywords: Bioid Proximity Assay; Cellular Stress Response; Live Cell Microscopy; Mitochondrial Fission; Mitochondrial Fusion; Mitochondrial Lipid Metabolism; Neurodegenerative Disease; Organelle Contacts; Slc25a46; Super Resolution Microscopy
Functional analysis of mitochondrial-endoplasmic reticulum contact sites
Principal investigators: Shoubridge, Eric A
Keywords: Calcium Metabolism; Esyt1; Lipid Transfer; Mitochondrial Biogenesis; Mitochondrial Disease; Organelle Contact Sites; Oxidative Phosphorylation; Proximity Biotinylation Assay; Slc25a46
The pathogenesis of CHCHD10 in familial ALS
Principal investigators: Shoubridge, Eric A
Keywords: Amyotrophic Lateral Sclerosis; Coiled Helix Coiled Helix Proteins; Frontotemporal Dementia; Ips Cells; Mitochondrial Disease; Motor Neurons; Myopathy; Oxidative Phosphorylation; Spinal Muscular Atrophy
Molecular pathology of SLC25A46, a degenerate mitochondrial carrier protein causing early onset neurodegenerative disease
Principal investigators: Shoubridge, Eric A
Keywords: Cell Cycle Regulation; Cellular Senescence; Lipid Transfer; Membrane Biogenesis; Mitochondrial Cristae Architecture; Mitochondrial Disease; Mitochondrial Er Contacts; Mitochondrial Metabolite Carrier
Posttranscriptional regulation of mitochondrial gene expression
Principal investigators: Shoubridge, Eric A
Keywords: Grsf1; Mitochondrial Disease; Mitochondrial Translation; Oxidative Phosphorylation; Respiratory Chain Assembly; Ribosome Assembly; Rna Binding Protein; Rna Granules
New emerging team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies
Principal investigators: Brais, Bernard; Gagnon, Cynthia; Gehring, Kalle B; Mathieu, Jean; McBride, Heidi M; Mckinney, Rebecca A; McPherson, Peter S; Shoubridge, Eric A; Young, Jason C
Keywords: Ataxia; Autosomal Recessive Spatique Ataxia Of Cherlevoix-Saguenay; Chaperone; Drug Screening; French-Canadian Population; Mitochondria; Orphan Disease; Structural Biology; Transgenic Knockout Mice
Mitochondrial translation defects in neurodegenerative disease
Principal investigators: Gawryluk, Ryan M
Keywords: Biochemical Genetics; Mammalian Cell Culture; Mitochondrial Disease; Mitochondrial Translation; Molecular Genetics; Oxidative Phosphorylation
The George Karpati Symposium on Neuromuscular Disease: Innovation and Application
Principal investigators: Hastings, Kenneth E
Keywords: Genetic Disorders; Neuromuscular
Cloning and functional analysis of nuclear gene defects for respiratory chain disorders
Principal investigators: Shoubridge, Eric A
Keywords: Biochemical Genetics; Functional Complementation; Mammalian Cell Culture; Mitochondrial Disease; Molecular Genetics; Oxidative Phosphorylation
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Human Genetics
- Neurology and Neurosurgery
- Biology
- Other
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