IRIS
BARUFFINI, Enrico
 Distribuzione geografica
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Continente #
NA - Nord America 6.921
AS - Asia 5.277
EU - Europa 3.877
SA - Sud America 730
Continente sconosciuto - Info sul continente non disponibili 602
AF - Africa 244
OC - Oceania 20
Totale 17.671
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Nazione #
US - Stati Uniti d'America 6.706
SG - Singapore 1.876
CN - Cina 1.322
IT - Italia 1.309
VN - Vietnam 828
IE - Irlanda 594
SE - Svezia 508
BR - Brasile 499
HK - Hong Kong 439
FI - Finlandia 316
DE - Germania 284
BD - Bangladesh 271
FR - Francia 191
ZA - Sudafrica 172
NL - Olanda 158
UA - Ucraina 147
GB - Regno Unito 120
TR - Turchia 113
CA - Canada 106
IN - India 92
CL - Cile 68
RU - Federazione Russa 60
AR - Argentina 57
MX - Messico 56
JP - Giappone 46
KR - Corea 40
IQ - Iraq 38
ES - Italia 34
BE - Belgio 29
EC - Ecuador 27
PL - Polonia 27
PH - Filippine 25
ID - Indonesia 23
PK - Pakistan 23
VE - Venezuela 23
CO - Colombia 22
SA - Arabia Saudita 21
AT - Austria 17
AU - Australia 16
CZ - Repubblica Ceca 14
UZ - Uzbekistan 14
CI - Costa d'Avorio 13
MA - Marocco 12
TH - Thailandia 12
TW - Taiwan 12
EG - Egitto 11
IL - Israele 11
IR - Iran 11
LT - Lituania 11
PT - Portogallo 10
PY - Paraguay 10
UY - Uruguay 10
EU - Europa 9
KE - Kenya 9
PE - Perù 9
AE - Emirati Arabi Uniti 8
CH - Svizzera 8
JM - Giamaica 8
AZ - Azerbaigian 7
CR - Costa Rica 7
TN - Tunisia 7
DK - Danimarca 6
ET - Etiopia 6
NI - Nicaragua 6
PA - Panama 6
AL - Albania 5
GE - Georgia 5
GT - Guatemala 5
MY - Malesia 5
DO - Repubblica Dominicana 4
DZ - Algeria 4
HN - Honduras 4
JO - Giordania 4
NO - Norvegia 4
NP - Nepal 4
RO - Romania 4
BH - Bahrain 3
BY - Bielorussia 3
GY - Guiana 3
KZ - Kazakistan 3
LB - Libano 3
LK - Sri Lanka 3
MK - Macedonia 3
NG - Nigeria 3
NZ - Nuova Zelanda 3
SK - Slovacchia (Repubblica Slovacca) 3
TT - Trinidad e Tobago 3
AM - Armenia 2
BF - Burkina Faso 2
BO - Bolivia 2
CY - Cipro 2
GP - Guadalupe 2
LY - Libia 2
MD - Moldavia 2
OM - Oman 2
PR - Porto Rico 2
PS - Palestinian Territory 2
QA - Qatar 2
SI - Slovenia 2
SY - Repubblica araba siriana 2
Totale 17.057
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Città #
Singapore 934
Ashburn 746
San Jose 687
Dublin 591
Chandler 577
Santa Clara 577
Hong Kong 410
Dallas 398
Beijing 304
Parma 284
Ho Chi Minh City 248
Council Bluffs 223
Ann Arbor 213
Hanoi 192
Boardman 191
Dearborn 179
Jacksonville 172
Los Angeles 171
Johannesburg 159
New York 133
Shanghai 133
Nanjing 120
Lauterbourg 101
Princeton 99
Milan 98
Izmir 90
Wilmington 81
Buffalo 68
São Paulo 64
Hefei 61
Munich 49
Rome 49
Bologna 47
Helsinki 47
San Mateo 46
Haiphong 41
Columbus 40
Moscow 40
Toronto 37
Houston 36
Jinan 36
Shenyang 36
The Dalles 36
Des Moines 34
Nuremberg 34
Tokyo 33
Santiago 32
Woodbridge 31
Da Nang 29
Falls Church 28
Brussels 27
Nanchang 27
Oceanside 27
Dosolo 26
Orem 26
Phoenix 26
Tianjin 26
Brooklyn 25
Seoul 25
Guangzhou 24
Hebei 24
Kunming 23
Padova 23
Atlanta 22
London 22
Seattle 22
Warsaw 21
Denver 20
Montreal 20
Changsha 19
Jakarta 19
Mexico City 19
Redmond 19
Frankfurt am Main 18
Boston 17
Amsterdam 16
Hải Dương 16
Zhengzhou 16
Belo Horizonte 15
Catania 15
Chicago 15
Modena 15
Rio de Janeiro 15
Stockholm 15
Turin 15
Brescia 14
Chennai 14
Naples 14
San Francisco 14
Turku 14
Vienna 14
Abidjan 13
Baghdad 13
Figino 13
Florence 13
Haikou 13
Brasília 12
Charlotte 12
Marseille 12
Philadelphia 12
Totale 9.982
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Nome #
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies 368
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex 356
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study 342
Yeast-Based Functional Investigation of ELAC2 Variants in Mitochondrial Dysfunction 261
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases 227
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 225
Yeast models of human MTO1 variants confirm two diagnoses of mitochondrial modopathy 210
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 206
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism 205
DNA polymerase [gamma] and disease: what we have learned from yeast 203
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism 202
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 199
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 192
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 192
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites 188
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae 187
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 187
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 182
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 180
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 179
A yeast-based repurposing approach for the treatment of mitochondrial DNA depletion syndromes led to the identification of molecules able to modulate the dNTP pool 177
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae 171
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of Clofilium tosylate as a potential therapeutic chemical against POLG-related diseases 169
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 169
Investigation of mupirocin susceptibility in bifidobacteria: physiological and genetic insights. 168
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases 167
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 167
S. cerevisiae carrying a MGM1/OPA1 chimeric gene: a model for the study of dominant optic atrophy and for drug discovery 167
A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerases 165
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. 164
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 163
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 162
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability 162
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review 160
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 160
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 157
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 157
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 155
A variable neurodegenerative phenotype with polymerase gamma mutation 154
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 154
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast 153
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of DNA polymerase gamma allelic variants 152
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 152
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 151
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 151
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 148
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 147
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 147
YEAST MODEL FOR NOVEL AARS2 MUTATIONS ASSOCIATED WITH PROGRESSIVE LEUKOENCEPHALOPATHY AND CEREBELLAR ATAXIA 146
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment 145
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae 145
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 144
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy 144
Mitochondrial Aminoacyl-tRNA Synthetase: The Power Of Yeast In Modeling Human Pathological Mutations 144
Mitochondrial disorders caused by mutations impairing miotchondrial dynamics 144
A simple organism to address big questions: how Saccharomyces cerevisiae can support mitochondrial medicine 140
How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems 140
De novo DNM1L pathogenic variant associated with lethal encephalocardiomyopathy and a literature review 139
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy 139
Yeast equivalents of disease associated human POLG mutations show deleterious cooperative effects in vivo 138
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of Polg allelic variants 138
Construction of a yeast model system for studying in vivo susceptibility to stavudine of Polg allelic variants 138
Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant 137
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 137
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 137
Clinical and molecular features of mitochondrial DNA depletion syndromes. 136
Overexpression of DNA polymerase zeta and Rev1 reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 135
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE 135
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features 134
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease 134
The absence of SNF8 in the yeast Saccharomyces cerevisiae leads to mitochondrial dysfunction 134
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models 134
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 130
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 128
Saccharomyces cerevisiae, a model system to study the effect of mtDNA polymerase mutations associated with PEO in humans. 126
The power of yeast in modeling human mutations: mitochondrial aminoacyl tRNA synthetases and mitochondrial tRNA modifiers 125
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 125
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 125
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 124
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains 120
The power of yeast in modeling human mutations leading to mitochondrial disease 119
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 117
The yeast Saccharomyces cerevisiae as a model to deepen the knowledge about the mitochondrial metallopeptidase PITRM1 in health and disease 116
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders 116
Yeast model for drug discovery: Identification of molecules acting as potential therapeutics for POLG-related diseases 115
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 113
Yeast as a model for drug discovery: Identification of a molecule acting as potential therapeutics for POLG-related diseases 113
Galactose transport in Kluyveromyces lactis: a genomic approach 112
Rescue by Pol zeta overexpression of mitochondrial DNA instability due to mutations in Pol gamma in S. cerevisiae 109
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model 108
Galactose transport in Kluyveromyces lactis: a genomic approach 107
Pre-clinical identification of drugs targeting polg disorders by using a zebrafish/yeast trans-species approach (ZIPPY) 106
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 106
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene 105
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders 105
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. 105
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 105
Galactose transport in Kluyveromyces lactis 103
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS 103
Yeast as a model for drug discovery: identification of a molecule acting as potential therapeutics for POLG-related diseases 102
Totale 15.485
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Categoria #
all - tutte 57.079
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 57.079
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022487 0 0 10 26 20 27 49 54 28 41 28 204
2022/20232.032 220 221 168 148 150 210 33 121 666 17 57 21
2023/2024933 56 74 39 31 70 182 101 72 23 90 67 128
2024/20252.992 59 129 165 189 352 462 118 125 433 230 219 511
2025/20266.806 586 662 705 588 955 352 750 214 884 483 358 269
2026/20271.052 239 545 268 0 0 0 0 0 0 0 0 0
Totale 17.671