Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, +45

The American Journal of Human Genetics

Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA

Adriana Malena, Emanuele Loro, Miriam Di Re, +2

Human Molecular Genetics

BiologyGenome InstabilityMitochondrial FunctionMitochondrial DynamicMedicine +12

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

Marco Spinazzi, Silvia Cazzola, Mario Bortolozzi, +14

Human Molecular Genetics

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

Emanuele Loro, Fabrizio Rinaldi, Adriana Malena, +7

Cell Death and Differentiation

Muscle FunctionDevelopmental BiologySkeletal MuscleNormal MyogenesisPhysiology +9

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

Doriana Borgia, Adriana Malena, Marco Spinazzi, +9

Human Molecular Genetics

Androgen ReceptorAmyotrophic Lateral SclerosisKinesiologyBiochemistrySkeletal Muscle +8

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy

Adriana Malena, Maria Pennuto, Caterina Tezze, +11

Acta Neuropathologica

Developmental BiologyEndocrine MechanismPhysiologyBulbar Muscular AtrophyReproductive Biology +3

Altered Ca2+ Homeostasis and Endoplasmic Reticulum Stress in Myotonic Dystrophy Type 1 Muscle Cells

Annalisa Botta, Adriana Malena, Emanuele Loro, +5

Genes

Ca2+ HomeostasisMuscle FunctionDmpk GeneCytoskeletonMechanotransduction +14

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

Carmelo Milioto, Adriana Malena, Eleonora Maino, +13

Scientific Reports

MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases

Annalisa Botta, Adriana Malena, Elena Tibaldi, +16

Cell Death and Disease

Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts

Boris Pantic, Doriana Borgia, Silvia Giunco, +9

Experimental Cell Research

Regenerative MedicineMuscle FunctionPrimary Human MyoblastsSkeletal MuscleHuman Tissue +6