Francesco Zorzato

Publications

• Bi-allelic Expression of the RyR1 P.A4329D Mutation Decreases Muscle Strength in Slow-twitch Muscles in Mice
  The Journal of Biological Chemistry. 07, 2020  |   Pubmed ID: 32499372
• Molecular Basis of Impaired Extraocular Muscle Function in a Mouse Model of Congenital Myopathy Due to Compound Heterozygous Ryr1 Mutations
  Human Molecular Genetics. 05, 2020  |   Pubmed ID: 32242214
• Extraocular Muscle Function is Impaired in Mice
  The Journal of General Physiology. 07, 2019  |   Pubmed ID: 31085573
• Quantitative RyR1 Reduction and Loss of Calcium Sensitivity of RyR1Q1970fsX16+A4329D Cause Cores and Loss of Muscle Strength
  Human Molecular Genetics. 09, 2019  |   Pubmed ID: 31044239
• Aberrant Regulation of Epigenetic Modifiers Contributes to the Pathogenesis in Patients with Selenoprotein N-related Myopathies
  Human Mutation. 07, 2019  |   Pubmed ID: 30932294
• Quantitative Reduction of RyR1 Protein Caused by a Single-allele Frameshift Mutation in RYR1 Ex36 Impairs the Strength of Adult Skeletal Muscle Fibres
  Human Molecular Genetics. 06, 2019  |   Pubmed ID: 30689883
• Congenital Myopathies: Disorders of Excitation-contraction Coupling and Muscle Contraction
  Nature Reviews. Neurology. 03, 2018  |   Pubmed ID: 29391587
• Over-expression of a Retinol Dehydrogenase (SRP35/DHRS7C) in Skeletal Muscle Activates MTORC2, Enhances Glucose Metabolism and Muscle Performance
  Scientific Reports. 01, 2018  |   Pubmed ID: 29330505
• Cellular, Biochemical and Molecular Changes in Muscles from Patients with X-linked Myotubular Myopathy Due to MTM1 Mutations
  Human Molecular Genetics. 01, 2017  |   Pubmed ID: 28007904
• Ca Handling Abnormalities in Early-onset Muscle Diseases: Novel Concepts and Perspectives
  Seminars in Cell & Developmental Biology. 04, 2017  |   Pubmed ID: 27427513
• An RYR1 Mutation Associated with Malignant Hyperthermia is Also Associated with Bleeding Abnormalities
  Science Signaling. 07, 2016  |   Pubmed ID: 27382027
• Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles
  The Journal of Biological Chemistry. Jul, 2016  |   Pubmed ID: 27189940
• Functional Characterization of Orbicularis Oculi and Extraocular Muscles
  The Journal of General Physiology. 05, 2016  |   Pubmed ID: 27069119
• Epigenetic Changes As a Common Trigger of Muscle Weakness in Congenital Myopathies
  Human Molecular Genetics. Aug, 2015  |   Pubmed ID: 26019235
• Raptor Ablation in Skeletal Muscle Decreases Cav1.1 Expression and Affects the Function of the Excitation-contraction Coupling Supramolecular Complex
  The Biochemical Journal. Feb, 2015  |   Pubmed ID: 25431931
• Characterization of Excitation-contraction Coupling Components in Human Extraocular Muscles
  The Biochemical Journal. Feb, 2015  |   Pubmed ID: 25387602
• The Transcriptional Coactivator PGC-1α is Dispensable for Chronic Overload-induced Skeletal Muscle Hypertrophy and Metabolic Remodeling
  Proceedings of the National Academy of Sciences of the United States of America. Dec, 2013  |   Pubmed ID: 24277823
• Gain of Function in the Immune System Caused by a Ryanodine Receptor 1 Mutation
  Journal of Cell Science. Aug, 2013  |   Pubmed ID: 23704352
• Enhanced Dihydropyridine Receptor Calcium Channel Activity Restores Muscle Strength in JP45/CASQ1 Double Knockout Mice
  Nature Communications. 2013  |   Pubmed ID: 23443569
• JP-45/JSRP1 Variants Affect Skeletal Muscle Excitation-contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor
  Human Mutation. Jan, 2013  |   Pubmed ID: 22927026
• The Corepressor NCoR1 Antagonizes PGC-1α and Estrogen-related Receptor α in the Regulation of Skeletal Muscle Function and Oxidative Metabolism
  Molecular and Cellular Biology. Dec, 2012  |   Pubmed ID: 23028049
• Endogenously Determined Restriction of Food Intake Overcomes Excitation-contraction Uncoupling in JP45KO Mice with Aging
  Experimental Gerontology. Apr, 2012  |   Pubmed ID: 22297108
• SRP-35, a Newly Identified Protein of the Skeletal Muscle Sarcoplasmic Reticulum, is a Retinol Dehydrogenase
  The Biochemical Journal. Jan, 2012  |   Pubmed ID: 21995425
• Myopathy Caused by Mammalian Target of Rapamycin Complex 1 (mTORC1) Inactivation is Not Reversed by Restoring Mitochondrial Function
  Proceedings of the National Academy of Sciences of the United States of America. Dec, 2011  |   Pubmed ID: 22143799
• Alterations of Excitation-contraction Coupling and Excitation Coupled Ca(2+) Entry in Human Myotubes Carrying CAV3 Mutations Linked to Rippling Muscle
  Human Mutation. Mar, 2011  |   Pubmed ID: 21294223
• Enhanced Excitation-coupled Ca(2+) Entry Induces Nuclear Translocation of NFAT and Contributes to IL-6 Release from Myotubes from Patients with Central Core Disease
  Human Molecular Genetics. Feb, 2011  |   Pubmed ID: 21088110
• Frequent Calcium Oscillations Lead to NFAT Activation in Human Immature Dendritic Cells
  The Journal of Biological Chemistry. May, 2010  |   Pubmed ID: 20348098
• Minor Sarcoplasmic Reticulum Membrane Components That Modulate Excitation-contraction Coupling in Striated Muscles
  The Journal of Physiology. Jul, 2009  |   Pubmed ID: 19403606
• A Recessive Ryanodine Receptor 1 Mutation in a CCD Patient Increases Channel Activity
  Cell Calcium. Feb, 2009  |   Pubmed ID: 19027160
• Upstream Stimulatory Factors Are Involved in the P1 Promoter Directed Transcription of the A Beta H-J-J Locus
  BMC Molecular Biology. Dec, 2008  |   Pubmed ID: 19087304
• Ryanodine Receptor Activation by Ca V 1.2 is Involved in Dendritic Cell Major Histocompatibility Complex Class II Surface Expression
  The Journal of Biological Chemistry. Dec, 2008  |   Pubmed ID: 18927079
• Loss of Skeletal Muscle Strength by Ablation of the Sarcoplasmic Reticulum Protein JP45
  Proceedings of the National Academy of Sciences of the United States of America. Dec, 2007  |   Pubmed ID: 18077436
• Ca2+ Signaling Through Ryanodine Receptor 1 Enhances Maturation and Activation of Human Dendritic Cells
  Journal of Cell Science. Jul, 2007  |   Pubmed ID: 17567682
• The Junctional SR Protein JP-45 Affects the Functional Expression of the Voltage-dependent Ca2+ Channel Cav1.1
  Journal of Cell Science. May, 2006  |   Pubmed ID: 16638807
• Functional Properties of Ryanodine Receptors Carrying Three Amino Acid Substitutions Identified in Patients Affected by Multi-minicore Disease and Central Core Disease, Expressed in Immortalized Lymphocytes
  The Biochemical Journal. Apr, 2006  |   Pubmed ID: 16372898