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List of works by Vincenzo Sorrentino

A Rett syndrome MECP2 mutation that causes mental retardation in men.

scientific article published in January 2002

A human amniotic cell line yielding high titres of human fibroblast interferon

scientific article published in December 1982

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

scientific article

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)

scientific article (publication date: 4 August 2000)

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

scientific article published on 26 October 2017

A novel c-kit transcript, potentially encoding a truncated receptor, originates within a kit gene intron in mouse spermatids.

scientific article published on July 1992

A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene

scientific article published on 28 April 2016

A pivotal role for cADPR-mediated Ca2+ signaling: regulation of endothelin-induced contraction in peritubular smooth muscle cells

scientific article published in May 2002

A proteolytic cleavage to separate the sarcolemma/T-tubule from the sarcoplasmic reticulum

scientific article published in February 2013

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

scientific article published on February 2007

ATP-induced activation of expressed RyR3 at low free calcium.

scientific article

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

scientific article

Action of lysosomotropic amines on spontaneous and interferon enhanced NK and CTL cytolysis

scientific article published on January 1984

Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene

scientific article published in January 2004

Alteration in calcium handling at the subcellular level in mdx myotubes.

scientific article

Alterations in the ryanodine receptor calcium release channel correlate with Alzheimer's disease neurofibrillary and beta-amyloid pathologies

scientific article

Ameliorating effects of the immunomodulator 3-(2-ethylphenyl)-5-(3-methoxyphenyl)-1H-1,2,4-triazole in an experimental model of colitis in the rat.

scientific article

Assembly and dynamics of proteins of the longitudinal and junctional sarcoplasmic reticulum in skeletal muscle cells

scholarly article

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

scientific article published in May 2005

Bcl-2 binds to and inhibits ryanodine receptors

scientific article published on 24 April 2014

Binding of Germ Cells to Mutant SId Sertoli Cells Is Defective and Is Rescued by Expression of the Transmembrane Form of the c-kit Ligand ⬇️

scientific article published on May 1, 1993

Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

scientific article

C-myc gene effects on cell growth and transformation.

scientific article published in January 1987

Ca2+ release induced by cyclic ADP ribose in mice lacking type 3 ryanodine receptor

scientific article published in November 2001

Ca2+ sparks and waves in canine purkinje cells: a triple layered system of Ca2+ activation.

scientific article

Calcium Homeostasis Is Modified in Skeletal Muscle Fibers of Small Ankyrin1 Knockout Mice

scientific article published on 09 July 2019

Calcium pools in Ehrlich carcinoma cells. A major, high affinity Ca2+ pool is sensitive to both inositol 1,4,5-trisphosphate and thapsigargin

scientific article published on 01 June 1995

Cardiac expression of ryanodine receptor subtype 3; a strategic component in the intracellular Ca2+ release system of Purkinje fibers in large mammalian heart.

scientific article

Cardiac myocytes differ in mRNA composition for sarcoplasmic reticulum Ca2+ channels and Ca2+ pumps.

scientific article published on March 1995

Cell proliferation inhibited by MyoD1 independently of myogenic differentiation

scientific article published on June 1990

Characterization and mapping of the 12 kDa FK506-binding protein (FKBP12)-binding site on different isoforms of the ryanodine receptor and of the inositol 1,4,5-trisphosphate receptor

scientific article

Chromosomal localization of murine ryanodine receptor genes RYR1, RYR2, and RYR3 by in situ hybridization.

scientific article published in July 1994

Comparison of Ca(2+) sparks produced independently by two ryanodine receptor isoforms (type 1 or type 3)

scientific article

Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy

scientific article published on 25 May 2017

Constant expression of hexose-6-phosphate dehydrogenase during differentiation of human adipose-derived mesenchymal stem cells.

scientific article

Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors

scientific article published in January 1998

Contribution of ryanodine receptor type 3 to Ca(2+) sparks in embryonic mouse skeletal muscle

scientific article

Cyclic adenosine diphosphate ribose activates ryanodine receptors, whereas NAADP activates two-pore domain channels.

scientific article

Deletion of small ankyrin 1 (sAnk1) isoforms results in structural and functional alterations in aging skeletal muscle fibers.

scientific article published on 29 October 2014

Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning

scientific article

Dihydropyridine receptor and ryanodine receptor gene expression in long-term denervated rat muscles

scientific article published on 01 November 1997

Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum

scientific article published on March 2014

Effect of TGF beta on liver genes expression. Antagonistic effect of TGF beta on IL-6-stimulated genes in Hep 3B cells

scientific article published on April 1992

Endothelial progenitor cells and colony-forming units in rheumatoid arthritis: association with clinical characteristics

scientific article published on 05 August 2008

Evidence for the transport of glutathione through ryanodine receptor channel type 1.

scientific article published on December 2003

Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice.

scientific article

Expression and functional activity of ryanodine receptors (RyRs) during skeletal muscle development.

scientific article published on 21 November 2006

Expression of a ryanodine receptor-Ca2+ channel that is regulated by TGF-beta

scientific article published on July 1992

Expression of cellular protooncogenes in the mouse male germ line: a distinctive 2.4-kilobase pim-1 transcript is expressed in haploid postmeiotic cells

scientific article

Expression of growth arrest-specific (gas) genes in senescent murine cells.

scientific article

Expression of the ryanodine receptor type 3 calcium release channel during development and differentiation of mammalian skeletal muscle cells

scientific article published on 01 August 1997

Expression of the ryanodine receptor type 3 in skeletal muscle. A new partner in excitation-contraction coupling?

scientific article

FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.

scientific article published in July 2012

FKBP12 associates tightly with the skeletal muscle type 1 ryanodine receptor, but not with other intracellular calcium release channels.

scientific article

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

scientific article

From growth arrest to growth suppression ⬇️

scientific article published on June 1, 1991

Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?

scientific article published on 29 May 2019

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

scientific article published on 16 January 2014

Functional properties of the ryanodine receptor type 3 (RyR3) Ca2+ release channel

scientific article

Generalised reduction of putative endothelial progenitors and CXCR4-positive peripheral blood cells in type 2 diabetes

scientific article published on 20 February 2008

Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1

scientific article

Homer proteins and InsP(3) receptors co-localise in the longitudinal sarcoplasmic reticulum of skeletal muscle fibres.

scientific article published in October 2002

Human pericytes isolated from adipose tissue have better differentiation abilities than their mesenchymal stem cell counterparts.

scientific article

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

scientific article published on 11 September 2017

Identification of cancer stem cells from human glioblastomas: growth and differentiation capabilities and CD133/prominin-1 expression.

scientific article published on January 2012

Imperatoxin A (IpTx(a)) from Pandinus imperator stimulates [(3)H]ryanodine binding to RyR3 channels

scientific article

Imperatoxin a enhances Ca(2+) release in developing skeletal muscle containing ryanodine receptor type 3.

scientific article

In situ activation of the type 2 ryanodine receptor in pancreatic beta cells requires cAMP-dependent phosphorylation.

scientific article published on May 1998

Induction and/or selective retention of proteins in mammalian cells exposed to cycloheximide

article by Vincenzo Sorrentino et al published 1 November 1985 in Journal of Cellular Physiology

Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.

scientific article

Interferon production in L929 cells under impaired translational conditions: comparison of rates of interferon, actin, Newcastle disease and encephalomyocarditis viruses mRNAs initiation of protein synthesis

scientific article published in January 1986

Intracellular Ca(2+) release channels in evolution

scientific article

Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle

scientific article

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication

scientific article published on 01 May 2009

Levels of circulating CXCR4-positive cells are decreased and negatively correlated with risk factors in cardiac transplant recipients

scientific article published on 30 October 2010

Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization.

scientific article

Localization of ank1.5 in the sarcoplasmic reticulum precedes that of SERCA and RyR: relationship with the organization of obscurin in developing sarcomeres

scientific article published on 11 November 2008

MECP2 mutation in male patients with non-specific X-linked mental retardation.

scientific article published in September 2000

Maurocalcine interacts with the cardiac ryanodine receptor without inducing channel modification

scientific article published on September 2007

Mesenchymal stem cells: from the perivascular environment to clinical applications

scientific article published on 07 May 2018

Metyrapone prevents cortisone-induced preadipocyte differentiation by depleting luminal NADPH of the endoplasmic reticulum

scientific article

Modulation of calcium signalling by dominant negative splice variant of ryanodine receptor subtype 3 in native smooth muscle cells

scientific article published on 04 May 2006

Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers

scientific article published on 17 July 2019

Molecular determinants of the structural and functional organization of the sarcoplasmic reticulum.

scientific article

Molecular genetics of Ca(2+) stores and intracellular Ca(2+) signalling.

scientific article

Molecular genetics of ryanodine receptors Ca2+-release channels

scientific article

Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum

scientific article

Molecular structure and tissue distribution of ryanodine receptors calcium channels

scientific article published on July 1995

Multi-potent progenitors in freshly isolated and cultured human mesenchymal stem cells: a comparison between adipose and dermal tissue

scientific article published on 19 February 2011

Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism

scientific article published on 09 May 2019

Muscle Research and Gene Ontology: New standards for improved data integration

scientific article

Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.

scientific article published in October 2008

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

scientific article published on 01 June 2009

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region

scientific article

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

scientific article (publication date: 16 January 2001)

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

scientific article

Not All Pericytes Are Born Equal: Pericytes from Human Adult Tissues Present Different Differentiation Properties.

scientific article

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

scientific article published on 26 August 2008

Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity ⬇️

scientific article published on February 18, 2013

Organization of junctional sarcoplasmic reticulum proteins in skeletal muscle fibers.

scientific article published on 15 September 2015

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients ⬇️

scientific article published on January 1, 2004

Pluripotency regulators in human mesenchymal stem cells: expression of NANOG but not of OCT-4 and SOX-2.

scientific article

Potentiation of growth factor activity by exogenous c-myc expression.

scientific article

Probing luminal negative charge in the type 3 ryanodine receptor.

scientific article published on 5 October 2005

Properties of ryanodine receptor in rat muscles submitted to unloaded conditions

scientific article published on 01 April 2000

Putative endothelial progenitor cells predict long-term mortality in type-2 diabetes

scientific article published on 30 July 2018

RYR2 proteins contribute to the formation of Ca(2+) sparks in smooth muscle

scientific journal article

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?

scientific article published in April 2003

Reduced levels of putative endothelial progenitor and CXCR4+ cells in coronary artery disease: kinetics following percutaneous coronary intervention and association with clinical characteristics

scientific article published on 01 June 2009

Regional and age-related differences in mRNA composition of intracellular Ca(2+)-release channels of rat cardiac myocytes.

scientific article published in March 1997

Regulation and expression of a growth arrest-specific gene (gas5) during growth, differentiation, and development ⬇️

scientific article published on August 1, 1992

Regulation of calcium sparks and spontaneous transient outward currents by RyR3 in arterial vascular smooth muscle cells

scientific article published in November 2001

Regulation of dihydropyridine receptor and ryanodine receptor gene expression in regenerating skeletal muscle.

scientific article published in January 1997

Regulation of expression of growth arrest-specific genes in mouse fibroblasts ⬇️

scientific article published on April 1, 1990

Renal metabolism of homologous serum interferon

scientific article published on 01 March 1983

Requirement for the ryanodine receptor type 3for efficient contraction in neonatal skeletal muscles ⬇️

scientific article published on December 1, 1997

Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b.

scientific article

Role of triadin in the organization of reticulum membrane at the muscle triad

scientific journal article

Ryanodine receptor type 3: why another ryanodine receptor isoform?

scientific article

Ryanodine receptors are expressed and functionally active in mouse spermatogenic cells and their inhibition interferes with spermatogonial differentiation.

scientific article

Ryanodine receptors are targeted by anti-apoptotic Bcl-XL involving its BH4 domain and Lys87 from its BH3 domain

scientific article

Ryanodine receptors: how many, where and why?

scientific article published on March 1993

SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

scientific article published on 01 February 2006

SCN1A mutation associated with atypical Panayiotopoulos syndrome

scientific article

Sarcoplasmic reticulum: Structural determinants and protein dynamics ⬇️

scientific article published on April 14, 2011

Selective expression of the type 3 isoform of ryanodine receptor Ca2+ release channel (RyR3) in a subset of slow fibers in diaphragm and cephalic muscles of adult rabbits

scientific article published in November 2005

Sorcin is an early marker of neurodegeneration, Ca2+ dysregulation and endoplasmic reticulum stress associated to neurodegenerative diseases

scientific article published on 15 October 2020

Spatial organization of RYRs and BK channels underlying the activation of STOCs by Ca(2+) sparks in airway myocytes

scientific article

Spontaneous and voltage-activated Ca2+ release in adult mouse skeletal muscle fibres expressing the type 3 ryanodine receptor.

scientific article published on 15 November 2007

Stem cells and muscle diseases.

scientific article published in January 2004

Structure and mutation analysis of the glycogen storage disease type 1b gene.

scientific article

The 12 kDa FK506-binding protein, FKBP12, modulates the Ca(2+)-flux properties of the type-3 ryanodine receptor.

scientific article

The KSR2-calcineurin complex regulates STIM1-ORAI1 dynamics and store-operated calcium entry (SOCE).

scientific article

The block of ryanodine receptors selectively inhibits fetal myoblast differentiation

scientific article published in April 2003

The gas 5 gene shows four alternative splicing patterns without coding for a protein

scientific article

The growth-inhibitory block of TGF-beta is located close to the G1/S border in the cell cycle

scientific article published on 01 April 1995

The multiple alternatives of intracellular calcium signaling: a functionally distinct RyR splicing variant in pancreatic islets.

scientific article

The potential of obscurin as a therapeutic target in muscle disorders.

scientific article published on 29 July 2017

The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues.

scientific article published on March 1995

The sarcoplasmic reticulum: an organized patchwork of specialized domains.

scientific article published on 04 February 2008

Tissue-Specific Cultured Human Pericytes: Perivascular Cells from Smooth Muscle Tissue Have Restricted Mesodermal Differentiation Ability

scientific article published on 8 March 2016

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene

scientific article published on 01 January 2007

Voltage-controlled Ca2+ release in normal and ryanodine receptor type 3 (RyR3)-deficient mouse myotubes.

scientific article published in November 1998

Xestospongin C is an equally potent inhibitor of the inositol 1,4,5-trisphosphate receptor and the endoplasmic-reticulum Ca(2+) pumps

scientific article published on 01 July 1999

Yip1B isoform is localized at ER-Golgi intermediate and cis-Golgi compartments and is not required for maintenance of the Golgi structure in skeletal muscle

scientific article

cDNA cloning reveals a tissue specific expression of alternatively spliced transcripts of the ryanodine receptor type 3 (RyR3) calcium release channel

scientific article published on September 1996

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