IRIS
CUBELLIS, MARIA VITTORIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.752
AS - Asia 897
EU - Europa 798
AF - Africa 38
SA - Sud America 20
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.511
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Nazione #
US - Stati Uniti d'America 1.719
SG - Singapore 451
IT - Italia 219
HK - Hong Kong 212
CN - Cina 207
RU - Federazione Russa 108
FI - Finlandia 103
UA - Ucraina 83
IE - Irlanda 74
DE - Germania 65
SE - Svezia 63
CI - Costa d'Avorio 35
CA - Canada 33
NL - Olanda 32
GB - Regno Unito 19
BR - Brasile 18
VN - Vietnam 18
FR - Francia 15
AT - Austria 8
AU - Australia 4
JP - Giappone 4
BE - Belgio 2
CH - Svizzera 2
DZ - Algeria 2
IN - India 2
TR - Turchia 2
AR - Argentina 1
DK - Danimarca 1
ES - Italia 1
EU - Europa 1
HR - Croazia 1
IL - Israele 1
LV - Lettonia 1
NZ - Nuova Zelanda 1
RO - Romania 1
TN - Tunisia 1
VE - Venezuela 1
Totale 3.511
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Città #
Chandler 317
Singapore 313
Santa Clara 267
Hong Kong 212
Jacksonville 92
Millbury 84
Princeton 83
Boston 66
Nanjing 62
Napoli 44
Beijing 39
Naples 35
Wilmington 35
Des Moines 33
Ottawa 32
Amsterdam 22
Nanchang 21
Ashburn 19
Lawrence 18
Hebei 17
Woodbridge 15
Ann Arbor 14
Shenyang 14
Falls Church 13
Munich 13
Norwalk 13
Dong Ket 12
Jiaxing 12
Lappeenranta 12
Kronberg 10
Milan 10
Seattle 10
Helsinki 8
Paris 8
Berlin 7
Boardman 7
Casavatore 7
Fairfield 7
Moscow 7
Rome 7
Tianjin 7
Dublin 6
Nuremberg 6
St Petersburg 6
Afragola 4
Changsha 4
Falkenstein 4
Ichibancho 4
Innsbruck 4
Perth 4
Tiggiano 4
Houston 3
Kunming 3
Los Angeles 3
Orange 3
Redwood City 3
San Francisco 3
Sant'antimo 3
Trento 3
Vienna 3
Altdorf 2
Bacoli 2
Capurso 2
Djelfa 2
Florence 2
Giugliano in Campania 2
Guangzhou 2
London 2
Marano Di Napoli 2
Menlo Park 2
Nashville 2
New York 2
San Mateo 2
Springfield 2
Ufa 2
Waanrode 2
Alessandria 1
Alta Floresta d'Oeste 1
Anápolis 1
Atlanta 1
Auckland 1
Bragança Paulista 1
Brooklyn 1
Busto Arsizio 1
Cabo Frio 1
Cadiz 1
Cardito 1
Caruaru 1
Casalnuovo Di Napoli 1
Changchun 1
Chengdu 1
Chongqing 1
Cimitile 1
Coroados 1
Curaçá Municipality 1
Dallas 1
Delhi 1
Distrito Federal 1
Dracena 1
Embu das Artes 1
Totale 2.153
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Nome #
Ribonucleases and angiogenins from fish. 84
PHYSICO-CHEMICAL CHARACTERZATION OF GEODIN: A NEW B, G- CRYSTALLINE- TYPE PROTEIN SPONGE 67
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG 58
An intron-less betagamma-crystallin-type gene from the sponge Geodia cydonium. 57
Properties of polyproline II, a secondary structure element implicated in protein-protein interaction 55
Different Mechanisms Cause Imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann Syndrome and Wilms’ Tumour. 54
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). 53
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2 52
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers 52
Aspartate-aminotransferase From Sulfolobus-solfataricus - A Hyperthermophilic Enzyme 49
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. 49
Pharmacological chaperones: A therapeutic approach for diseases caused by destabilizing missense mutations 49
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 49
Bioinformatics tools for marine biotechnology: A practical tutorial with a metagenomic approach 49
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease 48
Drug repositioning can accelerate discovery of pharmacological chaperones. 47
Secondary structure assignment that more accurately reflects physical and evolutionary characteristics. 44
IN SILICO DOCKING OF UROKINASE PLASMINOGEN ACTIVATOR AND INTEGRINS 44
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19 44
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG 42
Environment specific substitution tables for thermophilic proteins 42
Relaxation of Insulin-like growth factor-2 imprinting and discordant methylation at KvDMR1 in two first-cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes 42
An open reading frame in intron seven of the sea urchin DNA-methyltransferase gene codes for a functional AP1 endonuclease. 41
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor. 41
Indole-3-glycerol-phosphate Synthase From Sulfolobus-solfataricus As A Model For Studying Thermostable Tim-barrel Enzymes 41
D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo 41
Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis). 40
A Key Molecule Dictating and Regulating Surface Plasmin Formation : The Receptor for Urokinase Plasminogen ActivatorSerine Proteases and Their Serpin Inhibitors in the Nervous System 40
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones 40
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase 39
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 38
Limited proteolysis as a probe of conformational changes in aspartate aminotransferase from Sulfolobus solfataricus 37
Looking for protein stabilizing drugs with thermal shift assay. 37
Use of fast protein liquid chromatography (FPLC) for the purification of synthetic oligonucleotides 36
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase 36
Autocrine saturation of pro-urokinase receptors on human A431 cells. 36
Comparative studies on thermophilicity and thermostability of aspartate aminotransferases. 36
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations 36
An extremely thermostable aromatic aminotransferase from the hyperthermophilic archaeon Pyrococcus furiosus. 35
An intron-less βγ-crystallin-type gene from the sponge Geodia cydonium 35
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation 35
An EcoRI polymorphism for the PLAUR gene 34
The Functioning of Sulfolobus-solfataricus Aspartate-aminotransferase 34
Fetal growth patterns in Beckwith-Wiedemann syndrome 34
Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor 34
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances 34
Expression of a hyperthermophilic aspartate aminotransferase in Escherichia coli 33
Tryptophan Biosynthesis Genes TrpEGC In the Thermoacidophilic Archaebacterium Sulfolobus-solfataricus 33
Identification of trombospondin-1 as a novel amelogenin interactor by functional proteomics 33
Stability of aspartate aminotransferase from Sulfolobus solfataricus. 32
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 32
The active site of Sulfolobus solfataricus aspartate aminotransferase 32
Antitumor Action of Seminal Ribonuclease, Its Dimeric Structure, and Its Resistance to the Cytosolic Ribonuclease Inhibitor† 32
D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR 32
In vitro enzyme measurement to test pharmacological chaperone responsiveness in fabry and pompe disease 32
Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in fabry disease 32
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). 31
An ORF in the intron seven of the sea urchin DNA-methyltransferase gene codes for a functional AP1 endonuclease 31
Binding of single-chain prourokinase to the urokinase receptor of human U937 cells. 31
A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos 30
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat 30
Use of fast protein liquid chromatography for the purification of synthetic oligonucleotides 29
A thermodynamic assay to test pharmacological chaperones for Fabry disease. 29
Taming molecular flexibility to tackle rare diseases. 29
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol 29
Preparation and characterization of geodin. A betagamma-crystallin-type protein from a sponge. 28
Frequent pathological human mutations: a survey. 28
CDKN1C mutations: two sides of the same coin 28
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder. 27
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease 27
Inherited and Sporadic Epimutations at the IGF2-H19 Locus in Beckwith-Wiedemann Syndrome and Wilms’ Tumor. In: Endocrine Involvement in Developmental Syndromes. 26
Enzymes from extreme thermophilic bacteria as special catalysts: studies on a beta -galactosidase from Sulfolobus solfataricus 26
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. 26
PEGYLATION, THE ULTIMATE STRATEGY TO IMPROVE THE IN VIVO EFFICIENCY OF BIOACTIVE COMPOUNDS 26
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 25
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease 25
Stability of a thermophilic TIM-barrel enzyme: indolglycerol-phosphate synthase from the thermophilic archaeon Sulfolobus solfataricus. 25
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 25
The urokinase receptor and regulation of cell surface plasminogen activation 25
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF binding sites 25
Stability of aspartate aminotransferase from Sulfolobus solfataricus 25
Characterization of aromatic aminotransferases from the hyperthermophilic archaeon Thermococcus litoralis. 24
Nucleotide sequence of a cDNA coding for bovine mitochondrial aspartate aminotransferase. 24
Gain of function in CDKN1C 24
The receptor for urokinase-plasminogen activator 24
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones. 24
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation 23
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study 23
Accessibility of receptor-bound urokinase to type-1 plasminogen activator inhibitor. 23
Cloning and expression of the receptor for human urokinase plasminogen activator, a central molecule in cell surface, plasmin dependent proteolysis. 23
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy 23
ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts 22
Regulation of urokinase receptors in monocytelike U937 cells by phorbol ester phorbol myristate acetate. 22
Passenger mutations as a target for the personalized therapy of cancer 21
Cloning, Sequencing and Expression of A New Beta-galactosidase From the Extreme Thermophilic Sulfolobus-solfataricus 21
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 21
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype 21
Polyproline II in protein interactions 20
Isolation and sequencing of a new β-galactosidase-encoding archaebacterial gene 20
Identification and analysis of conserved pockets on protein surfaces 20
Totale 3.452
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Categoria #
all - tutte 18.192
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 18.192
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202098 0 0 0 0 0 0 0 0 1 25 39 33
2020/2021295 8 17 36 20 22 83 20 5 28 6 28 22
2021/2022503 16 0 12 2 5 9 8 16 78 35 80 242
2022/2023677 108 97 18 45 84 81 13 60 108 23 31 9
2023/2024392 27 77 36 15 22 12 3 48 10 10 96 36
2024/20251.227 200 208 12 32 125 192 343 115 0 0 0 0
Totale 3.689