IRIS
BARUFFINI, Enrico
 Distribuzione geografica
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Continente #
NA - Nord America 2.938
EU - Europa 2.641
AS - Asia 1.401
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 10
SA - Sud America 9
OC - Oceania 5
Totale 7.016
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Nazione #
US - Stati Uniti d'America 2.898
IT - Italia 798
CN - Cina 793
IE - Irlanda 586
SE - Svezia 492
SG - Singapore 440
FI - Finlandia 292
DE - Germania 168
UA - Ucraina 140
TR - Turchia 96
GB - Regno Unito 43
FR - Francia 38
CA - Canada 35
BE - Belgio 27
IN - India 20
ES - Italia 11
HK - Hong Kong 11
NL - Olanda 11
VN - Vietnam 10
CI - Costa d'Avorio 9
CZ - Repubblica Ceca 9
EU - Europa 9
IR - Iran 9
CL - Cile 6
PH - Filippine 5
KR - Corea 4
LT - Lituania 4
MX - Messico 4
PL - Polonia 4
RO - Romania 4
RU - Federazione Russa 4
AU - Australia 3
IL - Israele 3
JP - Giappone 3
PK - Pakistan 3
AT - Austria 2
BR - Brasile 2
CH - Svizzera 2
DK - Danimarca 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AR - Argentina 1
BD - Bangladesh 1
DM - Dominica 1
EE - Estonia 1
EG - Egitto 1
MC - Monaco 1
Totale 7.016
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Città #
Dublin 583
Chandler 577
Singapore 340
Parma 225
Ann Arbor 213
Ashburn 192
Dearborn 182
Jacksonville 170
Boardman 156
Beijing 154
Nanjing 121
Shanghai 121
Princeton 100
Izmir 90
Wilmington 80
San Mateo 47
New York 42
Shenyang 36
Helsinki 35
Jinan 34
Hefei 31
Woodbridge 31
Des Moines 28
Falls Church 28
Los Angeles 27
Nanchang 27
Dosolo 26
Toronto 26
Brussels 25
Hebei 25
Santa Clara 25
Tianjin 24
Kunming 23
Milan 21
Guangzhou 20
Padova 20
Redmond 19
Houston 17
Changsha 16
Seattle 16
Rome 14
Haikou 13
Bologna 12
Marseille 11
Zhengzhou 11
Dong Ket 10
Piacenza 10
Abidjan 9
Fairfield 9
Fremont 9
Jiaxing 9
Modena 9
Redwood City 9
Almería 8
Hangzhou 8
Sorbolo 8
Gravina di Catania 7
Langhirano 7
Scafati 7
Taizhou 7
Ardea 6
Cesenatico 6
Colombes 6
Dallas 6
Fuzhou 6
London 6
Munich 6
Pavia 6
Pittsburgh 6
Rockville 6
Amsterdam 5
Bremen 5
Brescia 5
Carpi 5
Davao City 5
Fontanellato 5
Frankfurt am Main 5
Hong Kong 5
Messina 5
Ningbo 5
Ravenna 5
Wuhan 5
Avola 4
Cagliari 4
Cambridge 4
Castelnuovo Rangone 4
Norwalk 4
Reggio Nell'emilia 4
Vicenza 4
Xian 4
Zanjan 4
Auburn Hills 3
Be'er Ya'aqov 3
Borås 3
Brno 3
Castenedolo 3
Chennai 3
Düsseldorf 3
Edinburgh 3
Este 3
Totale 4.343
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Nome #
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies 289
DNA polymerase [gamma] and disease: what we have learned from yeast 114
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism 105
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of DNA polymerase gamma allelic variants 103
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 103
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases 103
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 102
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 102
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 101
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 97
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 96
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 95
Yeast equivalents of disease associated human POLG mutations show deleterious cooperative effects in vivo 94
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 94
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism 92
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 92
S. cerevisiae carrying a MGM1/OPA1 chimeric gene: a model for the study of dominant optic atrophy and for drug discovery 92
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 92
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 92
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 91
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 91
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 90
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study 90
YEAST MODEL FOR NOVEL AARS2 MUTATIONS ASSOCIATED WITH PROGRESSIVE LEUKOENCEPHALOPATHY AND CEREBELLAR ATAXIA 89
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 88
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 84
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of Polg allelic variants 83
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. 83
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 83
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae 82
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites 82
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast 79
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 78
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 76
Clinical and molecular features of mitochondrial DNA depletion syndromes. 75
Construction of a yeast model system for studying in vivo susceptibility to stavudine of Polg allelic variants 75
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 75
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains 74
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 72
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 71
Saccharomyces cerevisiae, a model system to study the effect of mtDNA polymerase mutations associated with PEO in humans. 71
Investigation of mupirocin susceptibility in bifidobacteria: physiological and genetic insights. 71
Mitochondrial Aminoacyl-tRNA Synthetase: The Power Of Yeast In Modeling Human Pathological Mutations 71
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 71
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease 71
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. 70
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 69
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases 69
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE 69
A variable neurodegenerative phenotype with polymerase gamma mutation 68
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 68
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy 68
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 68
Overexpression of DNA polymerase zeta and Rev1 reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 67
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 66
Mitochondrial disorders caused by mutations impairing miotchondrial dynamics 66
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 66
Rescue by Pol zeta overexpression of mitochondrial DNA instability due to mutations in Pol gamma in S. cerevisiae 65
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model 65
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders 65
Yeast as a model for drug discovery: Identification of a molecule acting as potential therapeutics for POLG-related diseases 65
The power of yeast in modeling human mutations: mitochondrial aminoacyl tRNA synthetases and mitochondrial tRNA modifiers 64
Yeast as a model for drug discovery: identification of a molecule acting as potential therapeutics for POLG-related diseases 63
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 63
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 63
Galactose transport in Kluyveromyces lactis: a genomic approach 61
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS 61
Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1 60
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 60
Yeast as a model for drug repositioning: analysis of molecules acting as potential therapeutics for POLG-related diseases 58
Galactose transport in Kluyveromyces lactis 56
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 56
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 56
Yeast model for drug discovery: Identification of molecules acting as potential therapeutics for POLG-related diseases 56
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 56
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 56
Galactose transport in Kluyveromyces lactis: a genomic approach 55
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 55
Genetic rescue by enzymes involved in mitochondrial DNA repair of Saccharomyces cerevisiae phenotypes induced by mitochondrial DNA polymerase mutations 55
In vivo analysis of mtDNA replication defects in yeast 54
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability 54
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features 53
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 53
Galactose transporters discriminate steric anomers at the cell surface in yeast 52
Yeast equivalents of disease-associated human POLG mutations show deleterious cooperative effects. 52
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human 52
Studio nel sistema modello Saccharomyces cerevisiae di mutazioni patologiche nel gene POLG codificante la DNA polimerasi mitocondriale 51
The power of yeast in modeling human mutations leading to mitochondrial disease 49
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 48
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 48
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models 46
POLG determines the risk of sodium valproate induced liver toxicity 45
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 45
Pre-clinical identification of drugs targeting polg disorders by using a zebrafish/yeast trans-species approach (ZIPPY) 44
Yeast equivalents of disease-associated human Polg mutations show deleterious cooperative effects in vivo 44
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 44
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae 43
Novel (ovario) leukodystrophy related to AARS2 mutations 43
Unprocessed RNA intermediates interfere with mitochondrial translation and cause respiratory chain deficiency 40
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae 38
Totale 7.250
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Categoria #
all - tutte 27.924
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 27.924
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020951 0 0 0 0 80 406 141 33 124 83 40 44
2020/2021686 18 43 49 15 81 43 69 51 133 47 90 47
2021/2022534 23 19 10 26 20 27 50 55 29 41 28 206
2022/20232.041 222 222 169 148 150 210 34 122 669 17 57 21
2023/2024938 56 74 39 31 71 182 101 76 23 90 67 128
2024/2025708 59 130 166 190 163 0 0 0 0 0 0 0
Totale 7.577