Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research focused on Mitochondrion and Mitochondrial biogenesis, with related work in Apoptosis, TFEB, Phenotype. Notable publications include 'The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage', 'NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease', and 'Transcription Factor EB Controls Metabolic Flexibility during Exercise'.
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy
Mitochondrial complex I activity in microglia sustains neuroinflammation
Gene therapy for mitochondrial disorders
NAD+ repletion with niacin counteracts cancer cachexia
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients
Mitochondrial Neurodegeneration
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges
Measurement of mitochondrial respiratory chain enzymatic activities in Drosophila melanogaster samples
Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals
Structural basis for a complex I mutation that blocks pathological ROS production
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy
Strategies for fighting mitochondrial diseases
A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 Mice
Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia
Lifelong reduction in complex IV induces tissue‐specific metabolic effects but does not reduce lifespan or healthspan in mice
Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells
Selenoprotein N1 Redox Activity Leads to Mitochondrial Dysfunction in Skeletal Muscle
Transcription Factor EB Controls Metabolic Flexibility during Exercise
Down-regulation of mitochondrial aspartate/glutamate carrier isoform 1 in Neuro2A cells inhibits cell proliferation and N-acetyl-aspartate synthesis.
The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage
Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models
NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease
Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle
Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy