A5043132061- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Drug-Induced Ocular Toxicity
- 14-3-3 protein interactions
- Monoclonal and Polyclonal Antibodies Research
- Retinal Development and Disorders
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- Peroxisome Proliferator-Activated Receptors
University of Parma
2020-2023
Background Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in inner mitochondrial membrane (IMM). The contact site and organising system (MICOS) complex is known as ‘mitoskeleton’ due to its role maintaining IMM architecture. APOO encodes MIC26, a component MICOS, whose exact function maintenance or assembly has still not been completely elucidated. Methods We have studied family which most affected subject presented progressive developmental...
Background Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in DNA, LHON was recently described patients carrying biallelic nuclear genes DNAJC30 , NDUFS2 and MCAT . part fatty acid synthesis (mtFAS), as also MECR, the trans-2-enoyl-CoA reductase. MECR mutations lead recessive childhood-onset syndromic dystonia, atrophy basal...