Francesco Zorzato

Department of Biomedicine, Basel University Hospital

Affiliated withBasel University Hospital University of ferrara

Research Area

Biography

Francesco Zorzato has not added Biography.
If you are Francesco Zorzato and would like to personalize this page please email our Author Liaison for assistance.

JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2021

Other Publications

Article	Year
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortal... The Biochemical journal\| PubMed ID: 16372898	2006
The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1. Journal of cell science\| PubMed ID: 16638807	2006
Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells. Journal of cell science\| PubMed ID: 17567682	2007
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\| PubMed ID: 18077436	2007
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\| PubMed ID: 18927079	2008
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell calcium\| PubMed ID: 19027160	2009
Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus. BMC molecular biology\| PubMed ID: 19087304	2008
Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles. The Journal of physiology\| PubMed ID: 19403606	2009
Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells. The Journal of biological chemistry\| PubMed ID: 20348098	2010
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\| PubMed ID: 21088110	2011
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Human mutation\| PubMed ID: 21294223	2011
SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase. The Biochemical journal\| PubMed ID: 21995425	2012
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\| PubMed ID: 22143799	2011
Endogenously determined restriction of food intake overcomes excitation-contraction uncoupling in JP45KO mice with aging. Experimental gerontology\| PubMed ID: 22297108	2012
JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. Human mutation\| PubMed ID: 22927026	2013
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\| PubMed ID: 23028049	2012
Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice. Nature communications\| PubMed ID: 23443569	2013
Gain of function in the immune system caused by a ryanodine receptor 1 mutation. Journal of cell science\| PubMed ID: 23704352	2013
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\| PubMed ID: 24277823	2013
Characterization of excitation-contraction coupling components in human extraocular muscles. The Biochemical journal\| PubMed ID: 25387602	2015
Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex. The Biochemical journal\| PubMed ID: 25431931	2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Human molecular genetics\| PubMed ID: 26019235	2015
Functional characterization of orbicularis oculi and extraocular muscles. The Journal of general physiology\| PubMed ID: 27069119	2016
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles. The Journal of biological chemistry\| PubMed ID: 27189940	2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science signaling\| PubMed ID: 27382027	2016
Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. Seminars in cell & developmental biology\| PubMed ID: 27427513	2017
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Human molecular genetics\| PubMed ID: 28007904	2017
Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance. Scientific reports\| PubMed ID: 29330505	2018
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nature reviews. Neurology\| PubMed ID: 29391587	2018
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\| PubMed ID: 30689883	2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human mutation\| PubMed ID: 30932294	2019
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. Human molecular genetics\| PubMed ID: 31044239	2019
Extraocular muscle function is impaired in mice. The Journal of general physiology\| PubMed ID: 31085573	2019
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations. Human molecular genetics\| PubMed ID: 32242214	2020
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. The Journal of biological chemistry\| PubMed ID: 32499372	2020