Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Biology, Spinal and bulbar muscular atrophy, Internal medicine, Endocrinology, Myogenesis, and Riboflavin.
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet
Biosynthesis of Flavin Cofactors in Man: Implications in Health and Disease
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy
Altered Ca2+ Homeostasis and Endoplasmic Reticulum Stress in Myotonic Dystrophy Type 1 Muscle Cells
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases
Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis