IRIS
BARUFFINI, Enrico
 Distribuzione geografica
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Continente #
NA - Nord America 5.872
AS - Asia 4.987
EU - Europa 3.555
SA - Sud America 672
AF - Africa 240
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 10
Totale 15.351
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Nazione #
US - Stati Uniti d'America 5.729
SG - Singapore 1.861
CN - Cina 1.302
IT - Italia 1.025
VN - Vietnam 824
IE - Irlanda 594
SE - Svezia 507
BR - Brasile 480
HK - Hong Kong 430
FI - Finlandia 316
DE - Germania 273
FR - Francia 190
ZA - Sudafrica 169
NL - Olanda 156
UA - Ucraina 147
TR - Turchia 113
GB - Regno Unito 110
IN - India 88
CA - Canada 72
RU - Federazione Russa 60
BD - Bangladesh 54
CL - Cile 54
MX - Messico 54
AR - Argentina 52
JP - Giappone 44
KR - Corea 40
IQ - Iraq 38
ES - Italia 30
BE - Belgio 29
PL - Polonia 27
EC - Ecuador 23
ID - Indonesia 22
PH - Filippine 21
PK - Pakistan 20
SA - Arabia Saudita 19
VE - Venezuela 18
AT - Austria 17
CO - Colombia 15
CZ - Repubblica Ceca 14
UZ - Uzbekistan 14
CI - Costa d'Avorio 13
MA - Marocco 12
AU - Australia 11
EG - Egitto 11
IL - Israele 11
IR - Iran 11
LT - Lituania 11
TW - Taiwan 11
TH - Thailandia 10
EU - Europa 9
KE - Kenya 9
PE - Perù 9
PT - Portogallo 9
UY - Uruguay 9
CH - Svizzera 8
PY - Paraguay 8
AE - Emirati Arabi Uniti 7
AZ - Azerbaigian 7
TN - Tunisia 7
DK - Danimarca 6
ET - Etiopia 6
GE - Georgia 5
AL - Albania 4
DZ - Algeria 4
JM - Giamaica 4
JO - Giordania 4
NO - Norvegia 4
PA - Panama 4
RO - Romania 4
BH - Bahrain 3
BY - Bielorussia 3
GT - Guatemala 3
GY - Guiana 3
LB - Libano 3
LK - Sri Lanka 3
MY - Malesia 3
NG - Nigeria 3
NP - Nepal 3
NZ - Nuova Zelanda 3
CY - Cipro 2
DO - Repubblica Dominicana 2
KZ - Kazakistan 2
LY - Libia 2
OM - Oman 2
PS - Palestinian Territory 2
QA - Qatar 2
SI - Slovenia 2
SY - Repubblica araba siriana 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BF - Burkina Faso 1
BG - Bulgaria 1
BO - Bolivia 1
BW - Botswana 1
CR - Costa Rica 1
DM - Dominica 1
EE - Estonia 1
HR - Croazia 1
Totale 15.339
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Città #
Singapore 928
Ashburn 705
Dublin 591
Chandler 577
San Jose 512
Santa Clara 462
Hong Kong 401
Dallas 383
Beijing 298
Parma 267
Ho Chi Minh City 247
Ann Arbor 213
Hanoi 191
Boardman 180
Dearborn 179
Jacksonville 169
Johannesburg 159
Los Angeles 149
Shanghai 130
Nanjing 120
Lauterbourg 101
Princeton 99
New York 93
Izmir 90
Wilmington 80
Hefei 61
São Paulo 61
Munich 49
Helsinki 47
San Mateo 46
Buffalo 45
Milan 41
Haiphong 40
Moscow 40
Council Bluffs 39
Columbus 38
Jinan 36
Shenyang 36
Bologna 35
Toronto 35
Des Moines 34
Houston 34
Nuremberg 34
Tokyo 32
Woodbridge 31
Da Nang 29
Santiago 29
Falls Church 28
Brussels 27
Nanchang 27
Dosolo 26
Orem 26
Tianjin 26
Seoul 25
The Dalles 25
Guangzhou 24
Hebei 24
Kunming 23
Padova 23
Rome 23
Brooklyn 22
London 21
Warsaw 21
Seattle 20
Changsha 19
Jakarta 19
Mexico City 19
Redmond 19
Frankfurt am Main 18
Atlanta 17
Denver 17
Amsterdam 16
Hải Dương 16
Phoenix 16
Zhengzhou 16
Belo Horizonte 15
Boston 15
Catania 15
Montreal 15
Rio de Janeiro 15
Stockholm 15
Chennai 14
San Francisco 14
Turku 14
Vienna 14
Abidjan 13
Baghdad 13
Haikou 13
Marseille 12
Tashkent 12
Biên Hòa 11
Chicago 11
Modena 11
Mumbai 11
Brasília 10
Brescia 10
Can Tho 10
Dong Ket 10
Piacenza 10
Riyadh 10
Totale 9.112
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Nome #
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies 357
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study 313
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 213
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases 203
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism 197
DNA polymerase [gamma] and disease: what we have learned from yeast 195
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism 194
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 192
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 186
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 186
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites 183
Yeast-Based Functional Investigation of ELAC2 Variants in Mitochondrial Dysfunction 180
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 177
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 177
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 174
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 173
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 166
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 164
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 163
S. cerevisiae carrying a MGM1/OPA1 chimeric gene: a model for the study of dominant optic atrophy and for drug discovery 162
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae 161
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. 161
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 160
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae 159
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 157
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases 156
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 154
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 151
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 150
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 150
Investigation of mupirocin susceptibility in bifidobacteria: physiological and genetic insights. 150
Yeast models of human MTO1 variants confirm two diagnoses of mitochondrial modopathy 149
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of DNA polymerase gamma allelic variants 149
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 148
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 148
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 147
A variable neurodegenerative phenotype with polymerase gamma mutation 146
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast 146
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 143
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability 142
A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerases 141
Mitochondrial Aminoacyl-tRNA Synthetase: The Power Of Yeast In Modeling Human Pathological Mutations 141
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 140
YEAST MODEL FOR NOVEL AARS2 MUTATIONS ASSOCIATED WITH PROGRESSIVE LEUKOENCEPHALOPATHY AND CEREBELLAR ATAXIA 139
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae 139
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 138
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 138
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 137
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 137
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of Polg allelic variants 135
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 135
Construction of a yeast model system for studying in vivo susceptibility to stavudine of Polg allelic variants 134
Mitochondrial disorders caused by mutations impairing miotchondrial dynamics 134
Yeast equivalents of disease associated human POLG mutations show deleterious cooperative effects in vivo 133
Overexpression of DNA polymerase zeta and Rev1 reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 131
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 131
Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant 130
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 128
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 128
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE 127
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease 127
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models 127
Clinical and molecular features of mitochondrial DNA depletion syndromes. 126
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy 125
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features 124
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 122
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 120
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 120
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 120
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment 119
Saccharomyces cerevisiae, a model system to study the effect of mtDNA polymerase mutations associated with PEO in humans. 119
The absence of SNF8 in the yeast Saccharomyces cerevisiae leads to mitochondrial dysfunction 118
The power of yeast in modeling human mutations: mitochondrial aminoacyl tRNA synthetases and mitochondrial tRNA modifiers 117
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains 115
The power of yeast in modeling human mutations leading to mitochondrial disease 114
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders 114
Yeast model for drug discovery: Identification of molecules acting as potential therapeutics for POLG-related diseases 112
A simple organism to address big questions: how Saccharomyces cerevisiae can support mitochondrial medicine 111
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 110
De novo DNM1L pathogenic variant associated with lethal encephalocardiomyopathy and a literature review 109
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review 107
Galactose transport in Kluyveromyces lactis: a genomic approach 107
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model 106
Yeast as a model for drug discovery: Identification of a molecule acting as potential therapeutics for POLG-related diseases 106
Rescue by Pol zeta overexpression of mitochondrial DNA instability due to mutations in Pol gamma in S. cerevisiae 103
Galactose transport in Kluyveromyces lactis: a genomic approach 103
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 102
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 101
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 100
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 100
The yeast Saccharomyces cerevisiae as a model to deepen the knowledge about the mitochondrial metallopeptidase PITRM1 in health and disease 99
Galactose transport in Kluyveromyces lactis 99
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. 99
Pre-clinical identification of drugs targeting polg disorders by using a zebrafish/yeast trans-species approach (ZIPPY) 99
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS 99
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 98
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy 98
Yeast as a model for drug discovery: identification of a molecule acting as potential therapeutics for POLG-related diseases 97
Genetic rescue by enzymes involved in mitochondrial DNA repair of Saccharomyces cerevisiae phenotypes induced by mitochondrial DNA polymerase mutations 97
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders 96
Totale 14.063
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Categoria #
all - tutte 49.612
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 49.612
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021183 0 0 0 0 0 0 0 0 0 47 89 47
2021/2022529 23 19 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
2025/20266.124 586 662 705 588 955 352 750 214 884 428 0 0
Totale 15.937