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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Bertini, Penelope E Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria A Donati, Michela Di Nottia, Daniele Ghezzi, Amy Goldstein, Eric Haan, Rita Horvath, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla-Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo-Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W Taylor, Louis Levinger, Michal Minczuk
OAI: oai:www.repository.cam.ac.uk:1810/293279 • DOI: 10.17863/CAM.40434
Abstract
Mitochondria RNA RNase Z Cardiomyopathy mitochondrial disease Alleles Amino Acid Substitution Biomarkers Cardiomyopathy Hypertrophic Cohort Studies Enzyme Activation Female Gene Expression Genes Mitochondrial Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Infant Kinetics Male Mutation Neoplasm Proteins Phenotype Protein Conformation Protein Interaction Domains and Motifs RNA processing Post-Transcriptional RNA Transfer Structure-Activity Relationship Substrate Specificity