Ileana Ferrero
- Novel (ovario) leukodystrophy related to AARS2 mutations
2014/05/08 by Cristina Dallabona, Daria Diodato, Sietske H. Kevelam +27 · 28 citations
Biochemistry, Genetics and Molecular Biology · #RNA regulation and disease #Mitochondrial Function and Pathology #RNA and protein synthesis mechanisms
- Isolation of the DLD gene of Saccharomyces cerevisiae encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase
1993/04/01 by T. Lodi, Tiziana Lodi, I. Ferrero +1 · 14 citations
Biochemistry, Genetics and Molecular Biology · Materials Science · #Fungal and yeast genetics research #Microbial Metabolic Engineering and Bioproduction #Enzyme Structure and Function
- Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
2012/05/17 by Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack +13 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #ATP Synthase and ATPases Research #Biology #Cardiology #Cardiomyopathy and Myosin Studies #Gene #Genetics #Hypertrophic cardiomyopathy #Internal medicine #Lactic acidosis #Medicine #Mitochondrial Function and Pathology #Mutation #RNA #Transfer RNA
- TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
2015/07/17 by Christopher A. Powell, Christopher A. Powell, Robert Kopajtich +31 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Congenital Heart Disease Studies #Gene #Genetics #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial respiratory chain #Mitochondrion #Mutation #RNA #RNA modifications and cancer #Respiratory chain #Transfer RNA