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Woranontee Weraarpachai

Montreal Neurological Institute and Hospital

13

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753

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Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.

2021 Human Molecular Genetics
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A High-Density Human Mitochondrial Proximity Interaction Network

2020
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A High-Density Human Mitochondrial Proximity Interaction Network

2020 Cell Metabolism
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Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

2015 Human Molecular Genetics
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Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

2012 American Journal of Human Genetics
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Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

2011 European Journal of Human Genetics
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in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

2010
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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

2010 American Journal of Human Genetics
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Mutation in TACO1 , encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

2009 Nature Genetics
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