IRIS
BARUFFINI, Enrico
 Distribuzione geografica
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Continente #
NA - Nord America 2.656
EU - Europa 2.494
AS - Asia 885
Continente sconosciuto - Info sul continente non disponibili 10
SA - Sud America 6
OC - Oceania 5
AF - Africa 3
Totale 6.059
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Nazione #
US - Stati Uniti d'America 2.623
IT - Italia 721
CN - Cina 689
IE - Irlanda 565
SE - Svezia 491
FI - Finlandia 289
DE - Germania 156
UA - Ucraina 140
TR - Turchia 94
SG - Singapore 35
GB - Regno Unito 32
CA - Canada 29
BE - Belgio 27
FR - Francia 26
IN - India 19
ES - Italia 11
HK - Hong Kong 11
NL - Olanda 10
VN - Vietnam 10
EU - Europa 9
IR - Iran 9
CZ - Repubblica Ceca 6
PH - Filippine 5
CL - Cile 4
PL - Polonia 4
RO - Romania 4
AU - Australia 3
JP - Giappone 3
KR - Corea 3
MX - Messico 3
PK - Pakistan 3
AT - Austria 2
CH - Svizzera 2
DK - Danimarca 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AR - Argentina 1
BD - Bangladesh 1
BR - Brasile 1
DM - Dominica 1
EE - Estonia 1
EG - Egitto 1
MC - Monaco 1
Totale 6.059
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Città #
Chandler 577
Dublin 562
Ann Arbor 213
Parma 213
Dearborn 182
Ashburn 172
Jacksonville 170
Beijing 154
Nanjing 121
Princeton 100
Izmir 90
Wilmington 80
Shanghai 70
San Mateo 47
New York 42
Shenyang 36
Helsinki 34
Jinan 34
Hefei 31
Woodbridge 31
Boardman 29
Des Moines 28
Falls Church 28
Nanchang 27
Dosolo 26
Brussels 25
Hebei 25
Kunming 23
Tianjin 23
Toronto 21
Guangzhou 19
Redmond 19
Milan 18
Changsha 16
Seattle 16
Houston 15
Haikou 13
Bologna 12
Rome 11
Dong Ket 10
Piacenza 10
Zhengzhou 10
Fairfield 9
Fremont 9
Jiaxing 9
Redwood City 9
Almería 8
Hangzhou 8
Modena 8
Padova 8
Sorbolo 8
Gravina di Catania 7
Langhirano 7
Scafati 7
Taizhou 7
Ardea 6
Colombes 6
Fuzhou 6
Pavia 6
Rockville 6
Bremen 5
Brescia 5
Carpi 5
Davao City 5
Fontanellato 5
Hong Kong 5
Messina 5
Ningbo 5
Ravenna 5
Amsterdam 4
Avola 4
Cagliari 4
Cambridge 4
Castelnuovo Rangone 4
Cesenatico 4
Norwalk 4
Pittsburgh 4
Reggio Nell'emilia 4
Vicenza 4
Wuhan 4
Xian 4
Zanjan 4
Auburn Hills 3
Borås 3
Brno 3
Chennai 3
Düsseldorf 3
Edinburgh 3
Este 3
Kocaeli 3
London 3
Mardan 3
Montreal 3
Mumbai 3
Philadelphia 3
Tehran 3
Valparaíso 3
Vancouver 3
Washington 3
Auckland 2
Totale 3.667
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Nome #
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies 282
DNA polymerase [gamma] and disease: what we have learned from yeast 105
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of DNA polymerase gamma allelic variants 97
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 95
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 93
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 93
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism 92
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 90
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 90
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 89
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases 89
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 87
Yeast equivalents of disease associated human POLG mutations show deleterious cooperative effects in vivo 86
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 86
S. cerevisiae carrying a MGM1/OPA1 chimeric gene: a model for the study of dominant optic atrophy and for drug discovery 85
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 84
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 84
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 83
YEAST MODEL FOR NOVEL AARS2 MUTATIONS ASSOCIATED WITH PROGRESSIVE LEUKOENCEPHALOPATHY AND CEREBELLAR ATAXIA 82
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 82
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 82
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study 81
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 81
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of Polg allelic variants 77
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. 76
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 76
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 75
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 75
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae 74
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites 73
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism 72
Construction of a yeast model system for studying in vivo susceptibility to stavudine of Polg allelic variants 70
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains 68
Clinical and molecular features of mitochondrial DNA depletion syndromes. 67
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 67
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast 66
Saccharomyces cerevisiae, a model system to study the effect of mtDNA polymerase mutations associated with PEO in humans. 66
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 66
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 65
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. 64
Mitochondrial Aminoacyl-tRNA Synthetase: The Power Of Yeast In Modeling Human Pathological Mutations 64
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 63
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy 62
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease 62
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 61
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE 61
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders 61
Yeast as a model for drug discovery: Identification of a molecule acting as potential therapeutics for POLG-related diseases 61
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 61
A variable neurodegenerative phenotype with polymerase gamma mutation 60
Investigation of mupirocin susceptibility in bifidobacteria: physiological and genetic insights. 60
Overexpression of DNA polymerase zeta and Rev1 reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 59
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 59
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 59
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 59
Rescue by Pol zeta overexpression of mitochondrial DNA instability due to mutations in Pol gamma in S. cerevisiae 58
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model 58
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases 58
Mitochondrial disorders caused by mutations impairing miotchondrial dynamics 58
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 58
Yeast as a model for drug discovery: identification of a molecule acting as potential therapeutics for POLG-related diseases 57
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 57
Galactose transport in Kluyveromyces lactis: a genomic approach 57
Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1 55
Yeast as a model for drug repositioning: analysis of molecules acting as potential therapeutics for POLG-related diseases 55
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS 55
The power of yeast in modeling human mutations: mitochondrial aminoacyl tRNA synthetases and mitochondrial tRNA modifiers 54
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 53
Galactose transport in Kluyveromyces lactis 52
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 52
Yeast model for drug discovery: Identification of molecules acting as potential therapeutics for POLG-related diseases 51
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 51
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 51
Galactose transport in Kluyveromyces lactis: a genomic approach 50
Genetic rescue by enzymes involved in mitochondrial DNA repair of Saccharomyces cerevisiae phenotypes induced by mitochondrial DNA polymerase mutations 50
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 50
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human 49
Galactose transporters discriminate steric anomers at the cell surface in yeast 48
Studio nel sistema modello Saccharomyces cerevisiae di mutazioni patologiche nel gene POLG codificante la DNA polimerasi mitocondriale 48
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 48
In vivo analysis of mtDNA replication defects in yeast 48
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features 47
Yeast equivalents of disease-associated human POLG mutations show deleterious cooperative effects. 45
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 45
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability 44
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 43
The power of yeast in modeling human mutations leading to mitochondrial disease 42
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 41
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 41
POLG determines the risk of sodium valproate induced liver toxicity 40
Pre-clinical identification of drugs targeting polg disorders by using a zebrafish/yeast trans-species approach (ZIPPY) 40
Yeast equivalents of disease-associated human Polg mutations show deleterious cooperative effects in vivo 40
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 40
Novel (ovario) leukodystrophy related to AARS2 mutations 39
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 37
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 36
Unprocessed RNA intermediates interfere with mitochondrial translation and cause respiratory chain deficiency 34
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models 31
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis 30
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy 29
Totale 6.452
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Categoria #
all - tutte 20.123
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 20.123
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019136 0 0 0 0 0 0 0 0 0 9 115 12
2019/20201.440 205 212 57 15 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
2023/2024673 56 74 39 31 71 182 101 76 23 20 0 0
Totale 6.604