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1

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome

Panizza, E., Ercolino, T., Mori, L., Rapizzi, E., Castellano, M., Opocher, G., Ferrero, I., Neumann, H. P. H., Mannelli, M., Goffrini, P.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 516 KB

english, 2013

2

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy

Nolli, Cecilia, Goffrini, Paola, Lazzaretti, Mirca, Zanna, Claudia, Vitale, Rita, Lodi, Tiziana, Baruffini, Enrico

Journal:

Year:

2015

Language:

english

File:

PDF, 1.17 MB

english, 2015

3

Cloning and characterization of the lactate-specific inducible geneKlCYB2, encoding the cytochromeb2 ofKluyveromyces lactis

Alberti, Adriana, Goffrini, Paola, Ferrero, Iliana, Lodi, Tiziana

Journal:

Year:

2000

Language:

english

File:

PDF, 182 KB

english, 2000

4

Current Awareness

Alberti, Adriana, Goffrini, Paola, Ferrero, Iliana, Lodi, Tiziana

Journal:

Year:

2000

File:

PDF, 82 KB

2000

5

Isolation and molecular characterization of KlCOX14, a gene of Kluyveromyces lactis encoding a protein necessary for the assembly of the cytochrome oxidase complex

Alessandro Fiori, Michele Saliola, Paola Goffrini, Claudio Falcone

Journal:

Year:

2000

Language:

english

File:

PDF, 114 KB

english, 2000

6

Regulation of primary carbon metabolism in Kluyveromyces lactis

K.D Breunig, M Bolotin–Fukuhara, M.M Bianchi, D Bourgarel, C Falcone, I Ferrero, L Frontali, P Goffrini, J.J Krijger, C Mazzoni, C Milkowski, H.Y Steensma, M Wésolowski–Louvel, A.M Zeeman

Journal:

Enzyme and Microbial Technology

Year:

2000

Language:

english

File:

PDF, 305 KB

english, 2000

7

RAG1 and RAG2: Nuclear genes involved in the dependence/independence on mitochondrial respiratory function for growth on sugars

P. Goffrini, A. A. Algeri, C. Donnini, M. Wesolowski-Louvel, I. Ferrero

Journal:

Year:

1989

Language:

english

File:

PDF, 522 KB

english, 1989

8

A phosphoglucose isomerase gene is involved in the Rag phenotype of the yeastKluyveromyces lactis

Paola Goffrini, Micheline Wésolowski-Louvel, Iliana Ferrero

Journal:

Molecular Genetics and Genomics

Year:

1991

Language:

english

File:

PDF, 1.02 MB

english, 1991

9

Carbon catabolite repression inKluyveromyces lactis: isolation and characterization of theKINLDgene encoding the mitochondrial enzyme D-lactate ferricytochromecoxidoreductase

Tiziana Lodi, David O'Connor, Paola Goffrini, Iliana Ferrero

Journal:

Molecular Genetics and Genomics

Year:

1994

Language:

english

File:

PDF, 943 KB

english, 1994

10

AKluyveromyces lactisgene homologue toAAC2complements theSaccaromyces cerevisiae op1mutation

Anna Maria Viola, Cesira L. Galeotti, Paola Goffrini, Antonella Ficarelli, Iliana Ferrero

Journal:

Current Genetics

Year:

1995

Language:

english

File:

PDF, 595 KB

english, 1995

11

The in vivo effect of acriflavine on mitochondrial functions in the petite negative yeastHansenula saturnus

A. M. Viola, P. Goffrini, P. P. Puglisi, I. Ferrero

Journal:

Current Genetics

Year:

1986

Language:

english

File:

PDF, 187 KB

english, 1986

12

Killer DNA Plasmids of the YeastKluyveromyces lactis

Micheline Wésolowski, Angela Algeri, Paola Goffrini, Hiroshi Fukuhara

Journal:

Current Genetics

Year:

1982

Language:

english

File:

PDF, 570 KB

english, 1982

13

Respiratory pathways inHansenula saturnus

Anna Maria Viola, Francesca Tassi, Paola Goffrini, Tiziana Lodi, Iliana Ferrero

Journal:

Antonie van Leeuwenhoek

Year:

1983

Language:

english

File:

PDF, 603 KB

english, 1983

14

The respiratory activities of fourHansenulaspecies

A. M. Viola, T. Bortesi, R. Pizzigoni, P. P. Puglisi, P. Goffrini, I. Ferrero

Journal:

Antonie van Leeuwenhoek

Year:

1986

Language:

english

File:

PDF, 602 KB

english, 1986

15

Glucose transport in the yeastKluyveromyces lactis

Micheline Wésolowski-Louvel, Paola Goffrini, Iliana Ferrero, Hiroshi Fukuhara

Journal:

Molecular Genetics and Genomics

Year:

1992

Language:

english

File:

PDF, 1007 KB

english, 1992

16

Transcriptional regulation of the KlDLD gene, encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase in Kluyveromyces lactis: effect of Klhap2 and fog mutations

T. Lodi, Paola Goffrini, Iuri Bolondi, Iliana Ferrero

Journal:

Current Genetics

Year:

1998

Language:

english

File:

PDF, 350 KB

english, 1998

17

Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1

Enrico Baruffini, Paola Goffrini, Claudia Donnini, Tiziana Lodi

Journal:

FEMS Yeast Research

Year:

2006

Language:

english

File:

PDF, 323 KB

english, 2006

18

A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis

Journal:

FEMS Yeast Research

Year:

2007

Language:

english

File:

PDF, 346 KB

english, 2007

19

Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions

Giacomo Zara, Daniele Angelozzi, Simona Belviso, Laura Bardi, Paola Goffrini, Tiziana Lodi, Marilena Budroni, Ilaria Mannazzu

Journal:

FEMS Yeast Research

Year:

2009

Language:

english

File:

PDF, 533 KB

english, 2009

20

Functional analysis of the Kluyveromyces lactis PDR1 gene

Katarina Balkova, Marcela Sarinova, Zuzana Hodurova, Paola Goffrini, Yvetta Gbelska

Journal:

FEMS Yeast Research

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009

21

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Ghezzi, Daniele, Goffrini, Paola, Uziel, Graziella, Horvath, Rita, Klopstock, Thomas, Lochmüller, Hanns, D'Adamo, Pio, Gasparini, Paolo, Strom, Tim M, Prokisch, Holger

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 281 KB

english, 2009

22

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Valeria Massa, Erika Fernandez-Vizarra, Saad Alshahwan, Eman Bakhsh, Paola Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D'Adamo, Paolo Gasparini, Massimo Zeviani

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.12 MB

english, 2008

23

Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: Cell lipid composition, membrane integrity, viability and fermentative activity

Ilaria Mannazzu, Daniele Angelozzi, Simona Belviso, Marilena Budroni, Giovanni Antonio Farris, Paola Goffrini, Tiziana Lodi, Mario Marzona, Laura Bardi

Journal:

International Journal of Food Microbiology

Year:

2008

Language:

english

File:

PDF, 376 KB

english, 2008

24

Influence of Mutations in Hexose-Transporter Genes on Glucose Repression in Kluyveromyces Lactis

Jorg Weirich, Paola Goffrini, Petra Kuger, Iliana Ferrero, Karin D. Breunig

Journal:

Year:

1997

Language:

english

File:

PDF, 1.24 MB

english, 1997

25

Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca2+-ATPase

Francesca Farina, Daniela Uccelletti, Paola Goffrini, Ronald A Butow, Claudia Abeijon, Claudio Palleschi

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 324 KB

english, 2004

26

P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

H.A.L. Tuppen, J. Fehmi, B. Czermin, P. Goffrini, F. Meloni, I. Ferrero, L. He, E.L. Blakely, R. McFarland, R. Horvath, D.M. Turnbull, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

27

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Helen A.L. Tuppen, Janev Fehmi, Birgit Czermin, Paola Goffrini, Francesca Meloni, Iliana Ferrero, Langping He, Emma L. Blakely, Robert McFarland, Rita Horvath, Douglass M. Turnbull, Robert W. Taylor

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 366 KB

english, 2010

28

FLO11 expression and lipid biosynthesis are required for air–liquid biofilm formation in a Saccharomyces cerevisiae flor strain

Giacomo Zara, Paola Goffrini, Tiziana Lodi, Severino Zara, Ilaria Mannazzu, Marilena Budroni

Journal:

FEMS Yeast Research

Year:

2012

Language:

english

File:

PDF, 147 KB

english, 2012

29

FOG1andFOG2genes, required for the transcriptional activation of glucose-repressible genes ofKluyveromyces lactis, are homologous toGAL83andSNF1ofSaccharomyces cerevisiae

Paola Goffrini, Antonella Ficarelli, Claudia Donnini, Tiziana Lodi, Pier Paolo Puglisi, Iliana Ferrero

Journal:

Current Genetics

Year:

1996

Language:

english

File:

PDF, 1.89 MB

english, 1996

30

FOG1 and FOG2 genes, required for the transcriptional activation of glucose-repressible genes of Kluyveromyces lactis, are homologous to GAL83 and SNF1 of Saccharomyces cerevisiae

P. Goffrini, Antonella Ficarelli, Claudia Donnini, Tiziana Lodi, Pier Paolo Puglisi, Iliana Ferrero

Journal:

Current Genetics

Year:

1996

Language:

english

File:

PDF, 939 KB

english, 1996

31

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

De Rocco, Daniela, Cerqua, Cristina, Goffrini, Paola, Russo, Giovanna, Pastore, Annalisa, Meloni, Francesca, Nicchia, Elena, Moraes, Carlos T., Pecci, Alessandro, Salviati, Leonardo, Savoia, Anna

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2014

Language:

english

File:

PDF, 750 KB

english, 2014

32

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.08 MB

english, 2014

33

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

Indrieri, A., Conte, I., Chesi, G., Romano, A., Quartararo, J., Tate, R., Ghezzi, D., Zeviani, M., Goffrini, P., Ferrero, I., Bovolenta, P., Franco, B.

Journal:

EMBO Molecular Medicine

Year:

2014

Language:

english

File:

PDF, 119 KB

english, 2014

34

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

Indrieri, Alessia, Conte, Ivan, Chesi, Giancarlo, Romano, Alessia, Quartararo, Jade, Tatè, Rosarita, Ghezzi, Daniele, Zeviani, Massimo, Goffrini, Paola, Ferrero, Ileana, Bovolenta, Paola, Franco, Brun

Journal:

EMBO Molecular Medicine

Year:

2013

Language:

english

File:

PDF, 1.38 MB

english, 2013

35

Three Target Genes for the Transcriptional Activator Cat8p of Kluyveromyces lactis: Acetyl Coenzyme A Synthetase Genes KlACS1 and KlACS2 and Lactate Permease Gene KlJEN1

Lodi, T., Saliola, M., Donnini, C., Goffrini, P.

Journal:

Journal of Bacteriology

Year:

2001

Language:

english

File:

PDF, 1.39 MB

english, 2001

36

Improved Production of Heterologous Proteins by a Glucose Repression-Defective Mutant of Kluyveromyces lactis

Donnini, C., Farina, F., Neglia, B., Compagno, M. C., Uccelletti, D., Goffrini, P., Palleschi, C.

Journal:

Applied and Environmental Microbiology

Year:

2004

Language:

english

File:

PDF, 585 KB

english, 2004

37

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

Goffrini, P., Ercolino, T., Panizza, E., Giache, V., Cavone, L., Chiarugi, A., Dima, V., Ferrero, I., Mannelli, M.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 315 KB

english, 2009

38

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Fernandez-Vizarra, E., Bugiani, M., Goffrini, P., Carrara, F., Farina, L., Procopio, E., Donati, A., Uziel, G., Ferrero, I., Zeviani, M.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 7.73 MB

english, 2007

39

DNA polymerase Î³ and disease: what we have learned from yeast

Lodi, Tiziana, Dallabona, Cristina, Nolli, Cecilia, Goffrini, Paola, Donnini, Claudia, Baruffini, Enrico

Journal:

Frontiers in Genetics

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

40

The RAG2 gene of the yeast Kluyveromyces lactis codes for a putative phosphoglucose isomerase

Wésolowski-Louvel, Micheline, Goffrini, Paola, Ferrero, Iliana

Journal:

Nucleic Acids Research

Year:

1988

Language:

english

File:

PDF, 65 KB

english, 1988

41

RAG1 gene of the yeast Kluyveromyces lactis codes for a sugar transporter

Goffrini, P., Wesolowski-Louvel, M., Ferrero, I., Fukuhara, H.

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 84 KB

english, 1990

42

Respiration-Dependent Utilization of Sugars in Yeasts: a Determinant Role for Sugar Transporters

Goffrini, P., Ferrero, I., Donnini, C.

Journal:

Journal of Bacteriology

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

43

A recessive homozygous p.Asp92GlySDHDmutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.20 MB

english, 2015

44

IMP2, a gene involved in the expression of glucose-repressible genes in Saccharomyces cerevisiae

Lodi, T., Goffrini, P., Ferrero, I., Donnini, C.

Journal:

Microbiology (Society for General Microbiology)

Year:

1995

Language:

english

File:

PDF, 1.31 MB

english, 1995

45

Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60

Rizzetto, Lisa, Zanni, Elena, Uccelletti, Daniela, Ferrero, Ileana, Goffrini, Paola

Journal:

Journal of Aging Research

Year:

2012

Language:

english

File:

PDF, 2.52 MB

english, 2012

46

Hexokinase activity is affected in mutants of Kluyveromyces lactis resistant to glucose repression

Goffrini, P., Ficarelli, A., Ferrero, I.

Journal:

Microbiology (Society for General Microbiology)

Year:

1995

Language:

english

File:

PDF, 986 KB

english, 1995

47

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Alston, C. L., Davison, J. E., Meloni, F., van der Westhuizen, F. H., He, L., Hornig-Do, H.-T., Peet, A. C., Gissen, P., Goffrini, P., Ferrero, I., Wassmer, E., McFarland, R., Taylor, R. W.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 725 KB

english, 2012

48

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele

Journal:

Year:

2016

Language:

english

File:

PDF, 682 KB

english, 2016

49

Defective PITRM1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration

Brunetti, D., Torsvik, J., Dallabona, C., Teixeira, P., Sztromwasser, P., Fernandez-Vizarra, E., Cerutti, R., Reyes, A., Preziuso, C., D'Amati, G., Baruffini, E., Goffrini, P., Viscomi, C., Ferrero, I

Journal:

EMBO Molecular Medicine

Year:

2016

Language:

english

File:

PDF, 3.01 MB

english, 2016

50

Dominance of yeast aac2 R96H and aac2 R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function

Dallabona, Cristina, Baruffini, Enrico, Goffrini, Paola, Lodi, Tiziana

Journal:

Biochemical and Biophysical Research Communications

Year:

2017

Language:

english

File:

PDF, 666 KB

english, 2017