Associated Papers
Mitochondrial-specific perturbation of Drosophila RNase Z in neurons leads to motor impairments, disrupted learning and neurodegeneration.
Rajamani S et al.
Plos Genetics, 2025
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Saoura M et al.
Human Mutation, 2019
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
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
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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