Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Human mutation - 1 Oct 2019
Saoura Makenzie, Powell Christopher A, Kopajtich Robert, Alahmad Ahmad, Al-Balool Haya H, Albash Buthaina, Alfadhel Majid, Alston Charlotte L, Bertini Enrico, Bonnen Penelope E, Bratkovic Drago, Carrozzo Rosalba, Donati Maria A, Di Nottia Michela, Ghezzi Daniele, Goldstein Amy, Haan Eric, Horvath Rita, Hughes Joanne, Invernizzi Federica, Lamantea Eleonora, Lucas Benjamin, Pinnock Kyla-Gaye, Pujantell Maria, Rahman Shamima, Rebelo-Guiomar Pedro, Santra Saikat, Verrigni Daniela, McFarland Robert, Prokisch Holger, Taylor Robert W, Levinger Louis, Minczuk Michal
Abstract excerpt
Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, responsible for endonucleolytic cleavage of the...
Read the complete abstract on PubMedTopics
- Alleles
- Amino Acid Substitution
- Biomarkers