Stefania Scalise
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View article: Extracellular matrix remodeling links vascular–stromal dysfunction to neuronal tau pathology in Progressive Supranuclear Palsy
Extracellular matrix remodeling links vascular–stromal dysfunction to neuronal tau pathology in Progressive Supranuclear Palsy Open
Progressive supranuclear palsy-Richardson’s syndrome (PSP-RS) is a primary tauopathy lacking disease-modifying treatments, and the pathogenic mechanisms remain poorly understood. Here, combining patient-derived midbrain organoids with sing…
View article: hiPSCGEM01: A Genome-Scale Metabolic Model for Fibroblast-Derived Human iPSCs
hiPSCGEM01: A Genome-Scale Metabolic Model for Fibroblast-Derived Human iPSCs Open
Human induced pluripotent cells (hiPSCs), generated in vitro, represent a groundbreaking tool for tissue regeneration and repair. Understanding the metabolic intricacies governing hiPSCs is crucial for optimizing their performance across d…
View article: Caspase inhibition restores dopaminergic identity through the PKA–CREB–BDNF axis in Parkinson’s disease neurons
Caspase inhibition restores dopaminergic identity through the PKA–CREB–BDNF axis in Parkinson’s disease neurons Open
The progressive loss of dopaminergic identity in midbrain neurons is a hallmark of Parkinson’s disease (PD), contributing to synaptic dysfunction and neurodegeneration. While a subset of PD cases is linked to genetic mutations, the majorit…
View article: Non-neuronal, TGF-β–driven extracellular matrix restructuring promotes neurodegeneration in a PSP-Richardson syndrome model
Non-neuronal, TGF-β–driven extracellular matrix restructuring promotes neurodegeneration in a PSP-Richardson syndrome model Open
Progressive supranuclear palsy–Richardson syndrome (PSP-RS) is a rapidly progressive tauopathy lacking effective therapies. Although tau aggregation is a defining feature, the initiating mechanisms remain elusive. Here we used patient-deri…
View article: Distinct microRNA signatures define sporadic PSP-RS and PD in patient-derived midbrain organoids
Distinct microRNA signatures define sporadic PSP-RS and PD in patient-derived midbrain organoids Open
View article: An Automated Microfluidic Platform for In Vitro Raman Analysis of Living Cells
An Automated Microfluidic Platform for In Vitro Raman Analysis of Living Cells Open
We present a miniaturized, inexpensive, and user-friendly microfluidic platform to support biological applications. The system integrates a mini-incubator providing controlled environmental conditions and housing a microfluidic device for …
View article: Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures
Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures Open
Febrile seizures (FS) are a common childhood neurological condition triggered by fever in children without prior neurological disorders. While generally benign, some individuals, particularly those with complex FS or genetic predisposition…
View article: Modeling Sporadic Progressive Supranuclear Palsy in <scp>3D</scp> Midbrain Organoids: Recapitulating Disease Features for <scp>In Vitro</scp> Diagnosis and Drug Discovery
Modeling Sporadic Progressive Supranuclear Palsy in <span>3D</span> Midbrain Organoids: Recapitulating Disease Features for <span>In Vitro</span> Diagnosis and Drug Discovery Open
Objective Progressive Supranuclear Palsy (PSP) is a severe neurodegenerative disease characterized by tangles of hyperphosphorylated tau protein and tufted astrocytes. Developing treatments for PSP is challenging due to the lack of disease…
View article: Generation of hiPSCs lines from three sporadic Parkinson’s disease patients
Generation of hiPSCs lines from three sporadic Parkinson’s disease patients Open
Here, we described the generation of human induced pluripotent stem cell lines (hiPSCs) from three sporadic Parkinson's disease (sPD) patients by reprogramming of their peripheral blood mononuclear cells (PBMC).
View article: Mosaic midbrain organoids: a new tool to study Progressive Supranuclear Palsy and advancing clinical neurology research
Mosaic midbrain organoids: a new tool to study Progressive Supranuclear Palsy and advancing clinical neurology research Open
Progressive supranuclear palsy (PSP) is a severe neurodegenerative disease pathologically characterized by intracellular tangles of hyperphosphorylated tau protein, widely distributed across the neocortex, basal ganglia, and midbrain. Deve…
View article: Unraveling the impact of ZZZ3 on the mTOR/ribosome pathway in human embryonic stem cells homeostasis
Unraveling the impact of ZZZ3 on the mTOR/ribosome pathway in human embryonic stem cells homeostasis Open
Embryonic stem cells (ESCs) are defined as stem cells with self-renewing and differentiation capabilities. These unique properties are tightly regulated and controlled by complex genetic and molecular mechanisms, whose understanding is ess…
View article: Ascorbic acid mitigates the impact of oxidative stress in a human model of febrile seizure and mesial temporal lobe epilepsy
Ascorbic acid mitigates the impact of oxidative stress in a human model of febrile seizure and mesial temporal lobe epilepsy Open
Prolonged febrile seizures (FS) in children are linked to the development of temporal lobe epilepsy (MTLE). The association between these two pathologies may be ascribed to the long-term effects that FS exert on neural stem cells, negative…
View article: Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs
Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs Open
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive neurodegenerative disorder characterized by a complex symptomatology that includes action- and stimulus-sensitive myocl…
View article: Direct Visualization and Identification of Membrane Voltage‐Gated Sodium Channels from Human iPSC‐Derived Neurons by Multiple Imaging and Light Enhanced Spectroscopy
Direct Visualization and Identification of Membrane Voltage‐Gated Sodium Channels from Human iPSC‐Derived Neurons by Multiple Imaging and Light Enhanced Spectroscopy Open
In this study, transmission electron microscopy atomic force microscopy, and surface enhanced Raman spectroscopy are combined through a direct imaging approach, to gather structural and chemical information of complex molecular systems suc…
View article: Microfluidics for 3D Cell and Tissue Cultures: Microfabricative and Ethical Aspects Updates
Microfluidics for 3D Cell and Tissue Cultures: Microfabricative and Ethical Aspects Updates Open
The necessity to improve in vitro cell screening assays is becoming ever more important. Pharmaceutical companies, research laboratories and hospitals require technologies that help to speed up conventional screening and therapeutic proced…
View article: Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity
Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity Open
Mutations in SCN1A gene, encoding the voltage-gated sodium channel (VGSC) NaV1.1, are widely recognized as a leading cause of genetic febrile seizures (FS), due to the decrease in the Na+ current density, mainly affecting the inhibitory ne…
View article: Uncovering the Metabolic and Stress Responses of Human Embryonic Stem Cells to FTH1 Gene Silencing
Uncovering the Metabolic and Stress Responses of Human Embryonic Stem Cells to FTH1 Gene Silencing Open
Embryonic stem cells (ESCs) are pluripotent cells with indefinite self-renewal ability and differentiation properties. To function properly and maintain genomic stability, ESCs need to be endowed with an efficient repair system as well as …
View article: Dissecting the Molecular Response of Human Escs to Iron-Mediated Oxidative Stress by Genetic Silencing of FTH1 Gene
Dissecting the Molecular Response of Human Escs to Iron-Mediated Oxidative Stress by Genetic Silencing of FTH1 Gene Open
Background: Embryonic stem cells (ESCs) are pluripotent cells with indefinite self-renewal ability and differentiation properties. As such, to function properly and maintain genomic stability, ESCs need to be endowed with an efficient repa…
View article: Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease Open
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy caused by mutations in the gene encoding Cystatin B (CSTB), an inhibitor of lysosomal proteases. The most common mutation described in ULD patients is…
View article: Deciphering the Role of Wnt and Rho Signaling Pathway in iPSC-Derived ARVC Cardiomyocytes by In Silico Mathematical Modeling
Deciphering the Role of Wnt and Rho Signaling Pathway in iPSC-Derived ARVC Cardiomyocytes by In Silico Mathematical Modeling Open
Arrhythmogenic Right Ventricular cardiomyopathy (ARVC) is an inherited cardiac muscle disease linked to genetic deficiency in components of the desmosomes. The disease is characterized by progressive fibro-fatty replacement of the right ve…
View article: Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene
Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene Open
View article: Modeling Cardiac Disease Mechanisms Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Progress, Promises and Challenges
Modeling Cardiac Disease Mechanisms Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Progress, Promises and Challenges Open
Cardiovascular diseases (CVDs) are a class of disorders affecting the heart or blood vessels. Despite progress in clinical research and therapy, CVDs still represent the leading cause of mortality and morbidity worldwide. The hallmarks of …
View article: A Disposable Passive Microfluidic Device for Cell Culturing
A Disposable Passive Microfluidic Device for Cell Culturing Open
In this work, a disposable passive microfluidic device for cell culturing that does not require any additional/external pressure sources is introduced. By regulating the height of fluidic columns and the aperture and closure of the source …
View article: Stem Cells: The Game Changers of Human Cardiac Disease Modelling and Regenerative Medicine
Stem Cells: The Game Changers of Human Cardiac Disease Modelling and Regenerative Medicine Open
A comprehensive understanding of the molecular basis and mechanisms underlying cardiac diseases is mandatory for the development of new and effective therapeutic strategies.The lack of appropriate in vitro cell models that faithfully mirro…
View article: Stem Cells: The Game Changers of Human Cardiac Disease Modelling and Regenerative Medicine
Stem Cells: The Game Changers of Human Cardiac Disease Modelling and Regenerative Medicine Open
A comprehensive understanding of the molecular basis and mechanisms underlying cardiac diseases is mandatory for the development of new and effective therapeutic strategies. The lack of appropriate in vitro cell models that faithfully mirr…
View article: Similar miRNomic signatures characterize the follicular fluids collected after follicular and luteal phase stimulations in the same ovarian cycle
Similar miRNomic signatures characterize the follicular fluids collected after follicular and luteal phase stimulations in the same ovarian cycle Open
View article: Establishment and characterization of induced pluripotent stem cells (iPSCs) from central nervous system lupus erythematosus
Establishment and characterization of induced pluripotent stem cells (iPSCs) from central nervous system lupus erythematosus Open
Involvement of the central nervous system (CNS) is an uncommon feature in systemic lupus erythematosus (SLE), making diagnosis rather difficult and challenging due to the poor specificity of neuropathic symptoms and neurological symptoms. …
View article: Comprehensive proteogenomic analysis of human embryonic and induced pluripotent stem cells
Comprehensive proteogenomic analysis of human embryonic and induced pluripotent stem cells Open
Although the concepts of somatic cell reprogramming and human‐induced pluripotent stem cells (hiPSCs) generation have undergone several analyses to validate the usefulness of these cells in research and clinic, it remains still controversi…
View article: Development of 3D PVA scaffolds for cardiac tissue engineering and cell screening applications
Development of 3D PVA scaffolds for cardiac tissue engineering and cell screening applications Open
The aim of this study was the design of a 3D scaffold composed of poly(vinyl) alcohol (PVA) for cardiac tissue engineering (CTE) applications.
View article: The receptor protein tyrosine phosphatase PTPRJ negatively modulates the CD98hc oncoprotein in lung cancer cells
The receptor protein tyrosine phosphatase PTPRJ negatively modulates the CD98hc oncoprotein in lung cancer cells Open
PTPRJ, a receptor protein tyrosine phosphatase strongly downregulated in human cancer, displays tumor suppressor activity by negatively modulating several proteins involved in proliferating signals. Here, through a proteomic-based approach…