Associated Papers
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Disruption of Lrpprc affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type.
Fois A et al.
Journal of Rare Diseases (berlin, Germany), 2025
Structural basis of LRPPRC-SLIRP-dependent translation by the mitoribosome.
Singh V et al.
Nature Structural & Molecular Biology, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.
Caron-Godon CA et al.
International Journal of Molecular Sciences, 2024
Human induced pluripotent stem cells (hiPSCs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (LSFC).
Gélinas R et al.
Frontiers in Genetics, 2024
A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.
Muthaffar OY et al.
Frontiers in Pediatrics, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality.
Sabharwal A et al.
Elife, 2022
Expression signature of the Leigh syndrome French-Canadian type.
Bchetnia M et al.
Molecular Genetics and Metabolism Reports, 2022
Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation.
Honarmand S et al.
Molecular Genetics and Metabolism Reports, 2020
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E et al.
Italian Journal of Pediatrics, 2020
Humoral responses to the measles, mumps and rubella vaccine are impaired in Leigh Syndrome French Canadian patients.
Fois A et al.
Plos One, 2020
Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder.
Ruiz M et al.
Jci Insight, 2019
Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome.
Kotecha S et al.
Bmj Case Reports, 2019
mTORC1 is required for expression of LRPPRC and cytochrome-c oxidase but not HIF-1α in Leigh syndrome French Canadian type patient fibroblasts.
Mukaneza Y et al.
American Journal of Physiology. Cell Physiology, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Mitochondrial DNA transcription and translation: clinical syndromes.
Boczonadi V et al.
Essays in Biochemistry, 2018
Regulation of a minimal transcriptome by repeat domain proteins.
Ferreira N et al.
Seminars in Cell & Developmental Biology, 2018
Parkinson's disease-related gene variants influence pre-mRNA splicing processes.
Gaweda-Walerych K et al.
Neurobiology of Aging, 2016
SLIRP stabilizes LRPPRC via an RRM-PPR protein interface.
Spåhr H et al.
Nucleic Acids Research, 2016
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ et al.
Annals of Neurology, 2016
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M et al.
Brain : a Journal of Neurology, 2015
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome
Thompson Legault J et al.
Cell Reports, 2015
Mitochondrial transcript maturation and its disorders.
Van Haute L et al.
Journal of Inherited Metabolic Disease, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.
Sasarman F et al.
Human Molecular Genetics, 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
The genetics of Leigh syndrome and its implications for clinical practice and risk management.
Ruhoy IS et al.
The Application of Clinical Genetics, 2014
The leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) does not activate transcription in mammalian mitochondria.
Harmel J et al.
The Journal of Biological Chemistry, 2013
LRPPRC/SLIRP suppresses PNPase-mediated mRNA decay and promotes polyadenylation in human mitochondria.
Chujo T et al.
Nucleic Acids Research, 2012
Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.
Ghezzi D et al.
Advances in Experimental Medicine and Biology, 2012
Infantile mitochondrial encephalopathy.
Uziel G et al.
Seminars in Fetal & Neonatal Medicine, 2011
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Debray FG et al.
Journal of Medical Genetics, 2011
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
Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.
Sondheimer N et al.
Biochemistry, 2010
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
Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.
Kirby DM et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2008