Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Structural basis of 3'-tRNA maturation by the human mitochondrial RNase Z complex.
Valentín Gesé G et al.
The Embo Journal, 2024
Structural insights into human ELAC2 as a tRNA 3' processing enzyme.
Xue C et al.
Nucleic Acids Research, 2024
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.
Azab B et al.
Scientific Reports, 2024
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Cafournet C et al.
Life (basel, Switzerland), 2023
Cardiac RNase Z edited via CRISPR-Cas9 drives heart hypertrophy in Drosophila.
Migunova E et al.
Plos One, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster.
Migunova E et al.
Disease Models & Mechanisms, 2021
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Saoura M et al.
Human Mutation, 2019
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.
Paucar M et al.
Neurology, 2018
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation.
Kim YA et al.
Korean Journal of Pediatrics, 2017
The crystal structure of Trz1, the long form RNase Z from yeast.
Ma M et al.
Nucleic Acids Research, 2017
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
Akawi NA et al.
Orphanet Journal of Rare Diseases, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
Haack TB et al.
American Journal of Human Genetics, 2013
The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
Shinwari ZMA et al.
Cardiology, 0
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