List of works - Stefania Petrini

A possible role of transglutaminase 2 in the nucleus of INS-1E and of cells of human pancreatic islets

scientific article published on 27 November 2013

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

scientific article

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

scientific article published on 31 May 2017

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

scientific article

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

scientific article published on 25 August 2011

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

scientific article published on 07 October 2020

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

scientific article

CD4 downregulation by the human immunodeficiency virus type 1 Nef protein is dispensable for optimal output and functionality of viral particles in primary T cells

scientific article published on 29 September 2010

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting

scientific article

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report

scientific article

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.

scientific article

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

Choice of costimulatory domains and of cytokines determines CAR T-cell activity in neuroblastoma.

scientific article published on 15 March 2018

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

scientific article published on 18 March 2015

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

scientific article published on May 2016

Congenital muscular dystrophies: a brief review

scientific article

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells

scientific article published on 22 September 2016

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).

scientific article published on 15 October 2016

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

scientific article published on 14 March 2018

Distribution of cystinosin-LKG in human tissues.

scientific article

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

scientific article published in September 2005

ERAP1 regulates natural killer cell function by controlling the engagement of inhibitory receptors

scientific article

Emerin presence in platelets

scientific article (publication date: September 2000)

Expanding the clinical spectrum of POMT1 phenotype.

scientific article published on May 2006

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

scientific article published on 01 September 2006

Focal adhesion kinase (FAK) mediates the induction of pro-oncogenic and fibrogenic phenotypes in hepatitis C virus (HCV)-infected cells

scientific article

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

scientific article published on 10 April 2013

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

scientific article published on 11 August 2016

Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants

scientific article

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

scientific article published on 03 December 2007

High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes

scientific article published on 7 January 2016

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

scientific article

Histological effects of givinostat in boys with Duchenne muscular dystrophy

scientific article published on 11 July 2016

Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies

scientific article published in June 2003

Identifying the dynamics of actin and tubulin polymerization in iPSCs and in iPSC-derived neurons.

scientific article published on 15 November 2017

Immunocytochemical detection of emerin within the nuclear matrix

scientific article

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.

scientific article published in December 1998

Increase of Neuronal Nitric Oxide Synthase in Rat Skeletal Muscle during Ageing

scientific article published on 01 April 1998

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.

scientific article published on 11 April 2012

Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis

scientific article

Integration of Multiple Platforms for the Analysis of Multifluorescent Marking Technology Applied to Pediatric GBM and DIPG

scientific article published on 15 September 2020

Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence

scientific article

LPS-induced TNF-α factor mediates pro-inflammatory and pro-fibrogenic pattern in non-alcoholic fatty liver disease

scientific article published on 8 October 2015

Lamin A/C Mechanosensor Drives Tumor Cell Aggressiveness and Adhesion on Substrates With Tissue-Specific Elasticity

publication published on 14 September 2021

Liraglutide Treatment Ameliorates Neurotoxicity Induced by Stable Silencing of Pin1

scientific article published on 12 October 2019

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

scientific article published on 18 February 2013

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

scientific article published on 8 November 2005

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis

scientific article

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes

scientific article published on 09 February 2016

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

scientific article published on 10 July 2013

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Myosin as a potential redox-sensor: an in vitro study.

scientific article

Natural Killer Cells Efficiently Reject Lymphoma Silenced for the Endoplasmic Reticulum Aminopeptidase Associated with Antigen Processing

scientific article published on 20 January 2011

Nerve growth factor downregulates inflammatory response in human monocytes through TrkA

scientific article

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

scientific article published on 01 July 1999

Nutlin-3a enhances natural killer cell-mediated killing of neuroblastoma by restoring p53-dependent expression of ligands for NKG2D and DNAM-1 receptors

scientific article published on 10 December 2020

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

scientific article published on 01 April 1998

Osteosarcoma-derived extracellular vesicles induce a tumour-like phenotype in normal recipient cells

scientific article published on 11 January 2018

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

scientific article published in July 2017

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

scientific article published in October 2006

Phosphoinositide-specific phospholipase C isoforms are conveyed by osteosarcoma-derived extracellular vesicles

scientific article published on 24 June 2020

Protein glutathionylation in cellular compartments: A constitutive redox signal

Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease

Redox homeostasis and posttranslational modifications/activity of phosphatase and tensin homolog in hepatocytes from rats with diet-induced hepatosteatosis

scientific article published on 30 March 2011

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

scientific article (publication date: February 2004)

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

scientific article published on 09 May 2016

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

scientific article

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

scientific article published on 14 December 2012

Sialylation of N-linked glycans influences the immunomodulatory effects of IgM on T cells

scientific article published on 24 November 2014

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

Spleen development is modulated by neonatal gut microbiota

article

Src nuclear localization and its prognostic relevance in human osteosarcoma

scientific article published on 3 July 2017

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

scientific article

TFG binds LC3C to regulate ULK1 localization and autophagosome formation

scientific article published on 01 May 2021

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

scientific article published on 18 February 2020

The HIV-1 Nef protein has a dual role in T cell receptor signaling in infected CD4+ T lymphocytes

article

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

scientific article published on 13 November 2017

The effects of aromatase and 5 alpha-reductase inhibitors, antiandrogen, and sex steroids on Bidder's organs development and gonadal differentiation in Bufo bufo tadpoles.

scientific article published in February 1998

The empowerment of translational research: lessons from laminopathies.

scientific article

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

scientific article

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

scientific article

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review

scientific article

Use of short interfering RNA delivered by cationic liposomes to enable efficient down-regulation of PTPN22 gene in human T lymphocytes

scientific article

List of works by Stefania Petrini

A possible role of transglutaminase 2 in the nucleus of INS-1E and of cells of human pancreatic islets

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

CD4 downregulation by the human immunodeficiency virus type 1 Nef protein is dispensable for optimal output and functionality of viral particles in primary T cells

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Choice of costimulatory domains and of cytokines determines CAR T-cell activity in neuroblastoma.

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Congenital muscular dystrophies: a brief review

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Distribution of cystinosin-LKG in human tissues.

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

ERAP1 regulates natural killer cell function by controlling the engagement of inhibitory receptors

Emerin presence in platelets

Expanding the clinical spectrum of POMT1 phenotype.

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Focal adhesion kinase (FAK) mediates the induction of pro-oncogenic and fibrogenic phenotypes in hepatitis C virus (HCV)-infected cells

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies

Identifying the dynamics of actin and tubulin polymerization in iPSCs and in iPSC-derived neurons.

Immunocytochemical detection of emerin within the nuclear matrix

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.

Increase of Neuronal Nitric Oxide Synthase in Rat Skeletal Muscle during Ageing

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.

Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis

Integration of Multiple Platforms for the Analysis of Multifluorescent Marking Technology Applied to Pediatric GBM and DIPG

Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence

LPS-induced TNF-α factor mediates pro-inflammatory and pro-fibrogenic pattern in non-alcoholic fatty liver disease

Lamin A/C Mechanosensor Drives Tumor Cell Aggressiveness and Adhesion on Substrates With Tissue-Specific Elasticity

Liraglutide Treatment Ameliorates Neurotoxicity Induced by Stable Silencing of Pin1

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Myosin as a potential redox-sensor: an in vitro study.

Natural Killer Cells Efficiently Reject Lymphoma Silenced for the Endoplasmic Reticulum Aminopeptidase Associated with Antigen Processing

Nerve growth factor downregulates inflammatory response in human monocytes through TrkA

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

Nutlin-3a enhances natural killer cell-mediated killing of neuroblastoma by restoring p53-dependent expression of ligands for NKG2D and DNAM-1 receptors

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

Osteosarcoma-derived extracellular vesicles induce a tumour-like phenotype in normal recipient cells

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

Phosphoinositide-specific phospholipase C isoforms are conveyed by osteosarcoma-derived extracellular vesicles

Protein glutathionylation in cellular compartments: A constitutive redox signal

Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease

Redox homeostasis and posttranslational modifications/activity of phosphatase and tensin homolog in hepatocytes from rats with diet-induced hepatosteatosis

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Sialylation of N-linked glycans influences the immunomodulatory effects of IgM on T cells

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

Spleen development is modulated by neonatal gut microbiota

Src nuclear localization and its prognostic relevance in human osteosarcoma

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

TFG binds LC3C to regulate ULK1 localization and autophagosome formation

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

The HIV-1 Nef protein has a dual role in T cell receptor signaling in infected CD4+ T lymphocytes

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

The effects of aromatase and 5 alpha-reductase inhibitors, antiandrogen, and sex steroids on Bidder's organs development and gonadal differentiation in Bufo bufo tadpoles.

The empowerment of translational research: lessons from laminopathies.