Daniele Ghezzi
- Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
2013/08/29 by Xiaowu Gai, Daniele Ghezzi, Mark A. Johnson +52 · 29 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Ubiquitin and proteasome pathways #Endoplasmic Reticulum Stress and Disease
- Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
2014/11/26 by Robert Kopajtich, Thomas J. Nicholls, Thomas J. Nicholls +62 · 29 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research
- 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 · #Mitochondrial Function and Pathology #ATP Synthase and ATPases Research #Cardiomyopathy and Myosin Studies
- Novel (ovario) leukodystrophy related to AARS2 mutations
2014/05/08 by Cristina Dallabona, Daria Diodato, Sietske H. Kevelam +27 · 2 citations
Biochemistry, Genetics and Molecular Biology · #RNA regulation and disease #Mitochondrial Function and Pathology #RNA and protein synthesis mechanisms
- Human diseases associated with defects in assembly of OXPHOS complexes
2018/07/20 by Daniele Ghezzi, Massimo Zeviani · 2 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research
- New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
2016/03/08 by Andrea Legati, Aurelio Reyes, Alessia Nasca +11 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research