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P. Scudieri · SciRah

Researcher profile · Semantic Scholar

P. Scudieri

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P. Scudieri — researcher profile on SciRah

h-index: 24
Works: 74
Citations: 1,720

Most-cited papers

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia
P. Scudieri, E. Caci, Silvia Bruno, L. Ferrera +9 more
2012Journal of Physiology166 citations Open access
Semantic Scholar
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms
P. Scudieri, E. Caci, Arianna Venturini, E. Sondo +5 more
2015Journal of Physiology94 citations Open access
Semantic Scholar
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release
G. Gorrieri, P. Scudieri, E. Caci, M. Schiavon +13 more
2016Scientific Reports83 citations Open access
Semantic Scholar
The anoctamin family: TMEM16A and TMEM16B as calcium‐activated chloride channels
P. Scudieri, E. Sondo, L. Ferrera, L. Galietta
2012Experimental Physiology62 citations
Semantic Scholar
Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells
P. Scudieri, I. Musante, Arianna Venturini, Daniela Guidone +9 more
2020Cells55 citations Open access
Semantic Scholar
Increased expression of ATP12A proton pump in cystic fibrosis airways.
P. Scudieri, I. Musante, E. Caci, Arianna Venturini +9 more
2018JCI Insight54 citations Open access
Semantic Scholar
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
M. Scala, I. Schiavetti, F. Madia, Cristina Chelleri +24 more
2021Cancers53 citations Open access
Semantic Scholar
TRPV4 and purinergic receptor signalling pathways are separately linked in airway epithelia to CFTR and TMEM16A chloride channels
M. Genovese, Anna Borrelli, Arianna Venturini, Daniela Guidone +6 more
2019Journal of Physiology51 citations
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2024Nature Neuroscience50 citations Open access
Semantic Scholar
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
S. Baldassari, I. Musante, M. Iacomino, F. Zara +2 more
2020Frontiers in Cell and Developmental Biology45 citations Open access
Semantic Scholar
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.
P. Scudieri, E. Sondo, E. Caci, R. Ravazzolo +1 more
2013Biochemical Journal45 citations
Semantic Scholar
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
F. Amato, P. Scudieri, I. Musante, Valeria Tomati +11 more
2019Human Mutation42 citations Open access
Semantic Scholar
TMEM16A alternative splicing coordination in breast cancer
Ifeoma Ubby, E. Bussani, A. Colonna, G. Stacul +4 more
2013Molecular Cancer42 citations Open access
Semantic Scholar
Discovery of a picomolar potency pharmacological corrector of the mutant CFTR chloride channel
N. Pedemonte, F. Bertozzi, E. Caci, Federico Sorana +11 more
2020Science Advances41 citations Open access
Semantic Scholar
A minimal isoform of the TMEM16A protein associated with chloride channel activity
L. Ferrera, P. Scudieri, E. Sondo, A. Caputo +4 more
2011Biochimica et Biophysica Acta39 citations Open access
Semantic Scholar
Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene
Arianna Venturini, Anna Borrelli, I. Musante, P. Scudieri +4 more
2021International Journal of Molecular Sciences37 citations Open access
Semantic Scholar
Upregulation of TMEM16A Protein in Bronchial Epithelial Cells by Bacterial Pyocyanin
E. Caci, P. Scudieri, E. Di Carlo, P. Morelli +10 more
2015PLoS ONE37 citations Open access
Semantic Scholar
Light‐responsive microRNA miR‐211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance
Federica Naso, Daniela Intartaglia, Danila Falanga, C. Soldati +16 more
2020EMBO Journal36 citations Open access
Semantic Scholar
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
G. Balagura, J. Xian, A. Riva, Francesca Marchese +54 more
2022Neurology: Genetics34 citations Open access
Semantic Scholar
High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel
Valeria Tomati, E. Pesce, E. Caci, E. Sondo +7 more
2017Journal of Biological Chemistry32 citations Open access
Semantic Scholar
Non-canonical translation start sites in the TMEM16A chloride channel
E. Sondo, P. Scudieri, Valeria Tomati, E. Caci +4 more
2014Biochimica et Biophysica Acta25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy
Lizzia Raffaghello, E. Principi, S. Baratto, C. Panicucci +9 more
2022Pharmaceuticals24 citations Open access
Semantic Scholar
The Autophagy Inhibitor Spautin-1 Antagonizes Rescue of Mutant CFTR Through an Autophagy-Independent and USP13-Mediated Mechanism
E. Pesce, E. Sondo, L. Ferrera, Valeria Tomati +10 more
2018Frontiers in Pharmacology24 citations Open access
Semantic Scholar
An overview on chemical structures as ΔF508-CFTR correctors.
V. Spanò, A. Montalbano, A. Carbone, P. Scudieri +2 more
2019European journal of medicinal chemistry23 citations Open access
Semantic Scholar
Airway surface hyperviscosity and defective mucociliary transport by IL-17/TNF-α are corrected by β-adrenergic stimulus
Daniela Guidone, Martina Buccirossi, P. Scudieri, M. Genovese +8 more
2022JCI Insight21 citations Open access
Semantic Scholar
ANO4 (Anoctamin 4) Is a Novel Marker of Zona Glomerulosa That Regulates Stimulated Aldosterone Secretion
C. Maniero, P. Scudieri, Lalarukh Haris Shaikh, Wan-Feng Zhao +3 more
2019HYPERTENSION19 citations Open access
Semantic Scholar
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
S. Assereto, R. Piccirillo, S. Baratto, P. Scudieri +8 more
2016Laboratory Investigation19 citations Open access
Semantic Scholar
Pharmacological rescue of mutant CFTR protein improves the viscoelastic properties of CF mucus.
A. Gianotti, V. Capurro, P. Scudieri, L. Galietta +2 more
2016Journal of Cystic Fibrosis19 citations Open access
Semantic Scholar
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
A. Accogli, Shen-Zhao Lu, I. Musante, P. Scudieri +30 more
2022Cerebellum18 citations Open access
Semantic Scholar
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
N. Schwarz, Simone Seiffert, M. Pendziwiat, Annika V. Rademacher +44 more
2022Neurology18 citations Open access
Semantic Scholar
Isolation, cultivation, and application of primary respiratory epithelial cells obtained by nasal brushing, polyp samples, or lung explants
A. Golec, I. Pranke, P. Scudieri, K. Hayes +6 more
2022STAR Protocols16 citations Open access
Semantic Scholar
Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel
Mario Renda, M. Barreca, Anna Borrelli, V. Spanò +12 more
2023Scientific Reports15 citations Open access
Semantic Scholar
The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.
E. Gazzerro, S. Baratto, S. Assereto, S. Baldassari +14 more
2019American Journal of Pathology14 citations Open access
Semantic Scholar
Intermolecular Interactions in the TMEM16A Dimer Controlling Channel Activity
P. Scudieri, I. Musante, A. Gianotti, O. Moran +1 more
2016Scientific Reports14 citations Open access
Semantic Scholar
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
A. Accogli, G. Wiegand, M. Scala, C. Cerminara +29 more
2021Neurology12 citations Open access
Semantic Scholar
Normal Calcium-Activated Anion Secretion in a Mouse Selectively Lacking TMEM16A in Intestinal Epithelium
G. Vega, A. Guequén, M. Johansson, L. Arike +9 more
2019Frontiers in Physiology12 citations Open access
Semantic Scholar
Role of ANO4 in regulation of aldosterone secretion in the zona glomerulosa of the human adrenal gland.
C. Maniero, Jun-Hua Zhou, L. H. Shaikh, E. Azizan +5 more
2015The Lancet12 citations
Semantic Scholar
Peripheral localization of the epithelial sodium channel in the apical membrane of bronchial epithelial cells
I. Musante, P. Scudieri, Arianna Venturini, Daniela Guidone +4 more
2019Experimental Physiology11 citations Open access
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder
M. Scala, Valeria Tomati, Matteo P. Ferla, Mariateresa Lena +282 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons
S. Baldassari, C. Cervetto, S. Amato, Floriana Fruscione +10 more
2022International Journal of Molecular Sciences9 citations Open access
Semantic Scholar
SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease
G. Gorrieri, F. Zara, P. Scudieri
2022Biomolecules9 citations Open access
Semantic Scholar
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
M. Scala, M. Anijs, R. Battini, F. Madia +7 more
2021Italian Journal of Pediatrics9 citations Open access
Semantic Scholar
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
M. Scala, N. Drouot, S. MacLennan, M. Wessels +27 more
2022Human Mutation8 citations Open access
Semantic Scholar
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
A. Riva, G. Nobile, Thea Giacomini, M. Ognibene +20 more
2022Frontiers in Pediatrics7 citations Open access
Semantic Scholar
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity
Cristina Chelleri, M. Scala, P. de Marco, V. Guerriero +16 more
2023Human Mutation5 citations Open access
Semantic Scholar
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy
Francesca Marchese, Elena Faedo, M. S. Vari, P. Bergonzini +7 more
2021Journal of Pediatric Epilepsy5 citations
Semantic Scholar
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders
M. Iacomino, Nadia Houerbi, Sara Fortuna, J. Howe +29 more
2024Frontiers in Molecular Neuroscience4 citations Open access
Semantic Scholar
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
P. Borgia, S. Baldassari, N. Pedemonte, Ebba Alkhunaizi +31 more
2022Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar

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