Paolo Scudieri
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Explore the profile of Paolo Scudieri including associated specialties, affiliations and a list of published articles.
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52
Citations
795
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Recent Articles
1.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, et al.
Front Mol Neurosci
. 2024 Apr;
17:1268013.
PMID: 38650658
The human gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few...
2.
Scala M, Tomati V, Ferla M, Lena M, Cohen J, Fatemi A, et al.
Am J Hum Genet
. 2024 Feb;
111(3):529-543.
PMID: 38387458
The Rab family of guanosine triphosphatases (GTPases) includes key regulators of intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, and recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein,...
3.
Gorrieri G, Tamburro S, Baldassari S, Guerrisi S, Zara F, Ricci E, et al.
Stem Cell Res
. 2024 Feb;
76:103333.
PMID: 38350246
ZEB2 is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is...
4.
Debczynski M, Gorrieri G, Mojsak D, Guida F, Zara F, Scudieri P
Biomolecules
. 2023 Oct;
13(10).
PMID: 37892136
encodes the catalytic subunit of the non-gastric proton pump, which is expressed in many epithelial tissues and mediates the secretion of protons in exchange for potassium ions. In the airways,...
5.
Debczynski M, Mojsak D, Tamburro S, Baldassari S, Musante I, Casciaro R, et al.
Stem Cell Res
. 2023 Oct;
72:103232.
PMID: 37865062
Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing...
6.
Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel
Renda M, Barreca M, Borrelli A, Spano V, Montalbano A, Raimondi M, et al.
Sci Rep
. 2023 May;
13(1):7604.
PMID: 37165082
F508del, the most frequent mutation in cystic fibrosis (CF), impairs the stability and folding of the CFTR chloride channel, thus resulting in intracellular retention and CFTR degradation. The F508del defect...
7.
Chen S, Abou-Khalil B, Afawi Z, Ali Q, Amadori E, Anderson A, et al.
medRxiv
. 2023 Mar;
PMID: 36865150
Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979...
8.
Guidone D, Buccirossi M, Scudieri P, Genovese M, Sarnataro S, De Cegli R, et al.
JCI Insight
. 2022 Oct;
7(22).
PMID: 36219481
The fluid covering the surface of airway epithelia represents a first barrier against pathogens. The chemical and physical properties of the airway surface fluid are controlled by the activity of...
9.
Scudieri P, Pusch M
Pflugers Arch
. 2022 Sep;
474(11):1121-1122.
PMID: 36171315
No abstract available.
10.
Baldassari S, Cervetto C, Amato S, Fruscione F, Balagura G, Pelassa S, et al.
Int J Mol Sci
. 2022 Sep;
23(18).
PMID: 36142455
Human-induced pluripotent stem cells (hiPSCs) represent one of the main and powerful tools for the in vitro modeling of neurological diseases. Standard hiPSC-based protocols make use of animal-derived feeder systems...