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

por Rizzetto, Lisa, Zanni, Elena, Uccelletti, Daniela, Ferrero, Ileana, Goffrini, Paola
Publicado 2012

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

por Lodi, Tiziana, Dallabona, Cristina, Nolli, Cecilia, Goffrini, Paola, Donnini, Claudia, Baruffini, Enrico
Publicado 2015

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds

por Ceccatelli Berti, Camilla, Gilea, Alexandru Ionut, De Gregorio, Marco Armando, Goffrini, Paola
Publicado 2020

Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants

por Figuccia, Sonia, Degiorgi, Andrea, Ceccatelli Berti, Camilla, Baruffini, Enrico, Dallabona, Cristina, Goffrini, Paola
Publicado 2021

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

por Ceccatelli Berti, Camilla, Dallabona, Cristina, Lazzaretti, Mirca, Dusi, Sabrina, Tosi, Elena, Tiranti, Valeria, Goffrini, Paola
Publicado 2015

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

por Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele
Publicado 2016

The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases

por Ceccatelli Berti, Camilla, di Punzio, Giulia, Dallabona, Cristina, Baruffini, Enrico, Goffrini, Paola, Lodi, Tiziana, Donnini, Claudia
Publicado 2021

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability

por Gilea, Alexandru Ionut, Ceccatelli Berti, Camilla, Magistrati, Martina, di Punzio, Giulia, Goffrini, Paola, Baruffini, Enrico, Dallabona, Cristina
Publicado 2021

Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress

por Ceccatelli Berti, Camilla, Gihaz, Shalev, Figuccia, Sonia, Choi, Jae-Yeon, Pal, Anasuya C., Goffrini, Paola, Ben Mamoun, Choukri
Publicado 2022

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

por Indrieri, Alessia, Conte, Ivan, Chesi, Giancarlo, Romano, Alessia, Quartararo, Jade, Tatè, Rosarita, Ghezzi, Daniele, Zeviani, Massimo, Goffrini, Paola, Ferrero, Ileana, Bovolenta, Paola, Franco, Brunella
Publicado 2013

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

por Indrieri, Alessia, Conte, Ivan, Chesi, Giancarlo, Romano, Alessia, Quartararo, Jade, Tatè, Rosarita, Ghezzi, Daniele, Zeviani, Massimo, Goffrini, Paola, Ferrero, Ileana, Bovolenta, Paola, Franco, Brunella
Publicado 2014

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

por Aleo, Serena J, Del Dotto, Valentina, Fogazza, Mario, Maresca, Alessandra, Lodi, Tiziana, Goffrini, Paola, Ghelli, Anna, Rugolo, Michela, Carelli, Valerio, Baruffini, Enrico, Zanna, Claudia
Publicado 2020

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

por Legati, Andrea, Reyes, Aurelio, Ceccatelli Berti, Camilla, Stehling, Oliver, Marchet, Silvia, Lamperti, Costanza, Ferrari, Alberto, Robinson, Alan J, Mühlenhoff, Ulrich, Lill, Roland, Zeviani, Massimo, Goffrini, Paola, Ghezzi, Daniele
Publicado 2017

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

por Oláhová, Monika, Berti, Camilla Ceccatelli, Collier, Jack J, Alston, Charlotte L, Jameson, Elisabeth, Jones, Simon A, Edwards, Noel, He, Langping, Chinnery, Patrick F, Horvath, Rita, Goffrini, Paola, Taylor, Robert W, Sayer, John A
Publicado 2019

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

por Alston, Charlotte L, Davison, James E, Meloni, Francesca, van der Westhuizen, Francois H, He, Langping, Hornig-Do, Hue-Tran, Peet, Andrew C, Gissen, Paul, Goffrini, Paola, Ferrero, Ileana, Wassmer, Evangeline, McFarland, Robert, Taylor, Robert W
Publicado 2012

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

por 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, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Publicado 2015

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

por Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez‐Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M, Zeviani, Massimo, Bindoff, Laurence A
Publicado 2015

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

por Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.
Publicado 2021

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

por Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, van der Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola
Publicado 2021

Guidelines and recommendations on yeast cell death nomenclature

por Carmona-Gutierrez, Didac, Bauer, Maria Anna, Zimmermann, Andreas, Aguilera, Andrés, Austriaco, Nicanor, Ayscough, Kathryn, Balzan, Rena, Bar-Nun, Shoshana, Barrientos, Antonio, Belenky, Peter, Blondel, Marc, Braun, Ralf J., Breitenbach, Michael, Burhans, William C., Büttner, Sabrina, Cavalieri, Duccio, Chang, Michael, Cooper, Katrina F., Côrte-Real, Manuela, Costa, Vítor, Cullin, Christophe, Dawes, Ian, Dengjel, Jörn, Dickman, Martin B., Eisenberg, Tobias, Fahrenkrog, Birthe, Fasel, Nicolas, Fröhlich, Kai-Uwe, Gargouri, Ali, Giannattasio, Sergio, Goffrini, Paola, Gourlay, Campbell W., Grant, Chris M., Greenwood, Michael T., Guaragnella, Nicoletta, Heger, Thomas, Heinisch, Jürgen, Herker, Eva, Herrmann, Johannes M., Hofer, Sebastian, Jiménez-Ruiz, Antonio, Jungwirth, Helmut, Kainz, Katharina, Kontoyiannis, Dimitrios P., Ludovico, Paula, Manon, Stéphen, Martegani, Enzo, Mazzoni, Cristina, Megeney, Lynn A., Meisinger, Chris, Nielsen, Jens, Nyström, Thomas, Osiewacz, Heinz D., Outeiro, Tiago F., Park, Hay-Oak, Pendl, Tobias, Petranovic, Dina, Picot, Stephane, Polčic, Peter, Powers, Ted, Ramsdale, Mark, Rinnerthaler, Mark, Rockenfeller, Patrick, Ruckenstuhl, Christoph, Schaffrath, Raffael, Segovia, Maria, Severin, Fedor F., Sharon, Amir, Sigrist, Stephan J., Sommer-Ruck, Cornelia, Sousa, Maria João, Thevelein, Johan M., Thevissen, Karin, Titorenko, Vladimir, Toledano, Michel B., Tuite, Mick, Vögtle, F.-Nora, Westermann, Benedikt, Winderickx, Joris, Wissing, Silke, Wölfl, Stefan, Zhang, Zhaojie J., Zhao, Richard Y., Zhou, Bing, Galluzzi, Lorenzo, Kroemer, Guido, Madeo, Frank
Publicado 2018