Area of research
Molecular Biology · Cell Biology
Research interest
Research interests include Cellular transport and secretion, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, and Genetic Neurodegenerative Diseases.
Dietary pro-oxidant therapy by a vitamin K precursor targets PI 3-kinase VPS34 function
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
Reducing dynamin 2 (DNM2) rescues <i>DNM2</i> -related dominant centronuclear myopathy
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
The caveolin–cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies
Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy
Hereditary myopathy with early respiratory failure: occurrence in various populations
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Clinical utility gene card for: Centronuclear and myotubular myopathies