Area of research
Molecular Biology · Epidemiology
Research interest
Research focused on Genetics and Mitophagy, with related work in Mitochondrion, Cell biology, Senescence. Notable publications include 'Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence', 'Coenzyme Q biosynthesis in health and disease', and 'Genetics of Coenzyme Q10 Deficiency'.
Ambra1 deficiency impairs mitophagy in skeletal muscle
Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome
In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function
Coenzyme Q biosynthesis in health and disease
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
Genetics of Coenzyme Q10 Deficiency
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics