Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
41100445 (PubMed )
Supplement: pgen.1011876.s002.pdf
Structural basis of LRPPRC-SLIRP-dependent translation by the mitoribosome.
Singh V et al.
Nature Structural & Molecular Biology, 2024
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ et al.
Annals of Neurology, 2016
Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.
Iommarini L et al.
Mitochondrion, 2015
Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients.
Burelle Y et al.
Plos One, 2015
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
D'Amours G et al.
Bmc Medical Genomics, 2014
Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts.
Legault J et al.
Journal of Pharmacy & Pharmaceutical Sciences : a Publication of the Canadian Society for Pharmaceutical Sciences, Societe Canadienne Des Sciences Pharmaceutiques, 2011
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.
Sasarman F et al.
Molecular Biology of the Cell, 2010
The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA.
Xu F et al.
The Biochemical Journal, 2004
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