MALTECCA, FRANCESCA
MALTECCA, FRANCESCA
Facoltà di Medicina e Chirurgia
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation.
2004-01-01 Bruni, Ac; Takahashi Fujigasaki, J; Maltecca, Francesca; El Hachimi, Kh; Servadio, A; Casari, GIORGIO NEVIO; Maletta, R; Curcio, Sa; De Michele, G; Filla, S; Foncin, Jf; Duyckaerts, C.
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17
2003-01-01 De Michele, G; Maltecca, Francesca; Carella, M; Volpe, G; Orio, M; De Falco, A; Gombia, S; Servadio, A; Casari, GIORGIO NEVIO; Filla, A; Bruni, A.
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways
2013-01-01 Mancini, C; Roncaglia, P; Brussino, A; Stevanin, G; Lo Buono, N; Krmac, H; Maltecca, Francesca; Gazzano, E; Stella, Ab; Calvaruso, Ma; Iommarini, L; Cagnoli, C; Forlani, S; Le Ber, I; Durr, A; Brice, A; Ghigo, D; Casari, GIORGIO NEVIO; Porcelli, Am; Funaro, A; Gasparre, G; Gustincich, S; Brusco, A.
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration
2009-01-01 Maltecca, Francesca; Magnoni, R; Cerri, F; Cox, Ga; Quattrini, A; Casari, GIORGIO NEVIO
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation
2019-01-01 Longo, Fabiana; Benedetti, Sara; Zambon, Alberto A; Sora, Maria Grazia Natali; Di Resta, Chiara; De Ritis, Daniele; Quattrini, Angelo; Maltecca, Francesca; Ferrari, Maurizio; Previtali, Stefano Carlo
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria.
2010-01-01 Maltecca, Francesca; Casari, GIORGIO NEVIO
Intergenerational instability and marked anticipation in SCA-17
2003-01-01 Maltecca, Francesca; Filla, A; Castaldo, I; Coppola, G; Fragassi, Na; Carella, M; Bruni, A; Cocozza, S; Casari, GIORGIO NEVIO; Servadio, A; De Michele, G.
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice
2013-01-01 Magnoni, R; Palmfeldt, J; Christensen, Jh; Sand, M; Maltecca, Francesca; Corydon, Tj; West, M; Casari, GIORGIO NEVIO; Bross, P.
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics
2018-01-01 Consolato, Francesco; Maltecca, Francesca; Tulli, Susanna; Sambri, Irene; Casari, Giorgio
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
2019-01-01 Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
2019-01-01 Tulli, S.; Del Bondio, A.; Baderna, V.; Mazza, D.; Codazzi, F.; Pierson, T. M.; Ambrosi, A.; Nolte, D.; Goizet, C.; Toro, C.; Baets, J.; Deconinck, T.; Dejonghe, P.; Mandich, P.; Casari, G.; Maltecca, F.
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model
2015-01-01 Maltecca, Francesca; Baseggio, E; Consolato, F; Mazza, D; Podini, P; Young SM, Jr; Drago, I; Bahr, Ba; Puliti, A; Codazzi, F; Quattrini, A; Casari, GIORGIO NEVIO
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay
2024-01-01 De Ritis, Daniele; Ferrè, Laura; De Winter, Jonathan; Tremblay-Desbiens, Clémence; Blais, Mathieu; Bassi, Maria Teresa; Dupré, Nicolas; Baets, Jonathan; Filippi, Massimo; Maltecca, Francesca
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation
2012-01-01 Maltecca, Francesca; De Stefani, D; Cassina, L; Consolato, F; Wasilewski, M; Scorrano, L; Rizzuto, R; Casari, GIORGIO NEVIO
The mitochondrial protease AFG3L2 is essential for axonal development
2008-01-01 Maltecca, Francesca; Aghaie, A; Schroeder, Dg; Cassina, L; Taylor, Ba; Phillips, Sj; Malaguti, M; Previtali, S; Guenet, Jl; Quattrini, A; Cox, Ga; Casari, GIORGIO NEVIO
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
2021-01-01 Sferruzza, Giacomo; Del Bondio, Andrea; Citterio, Andrea; Vezzulli, Paolo; Guerrieri, Simone; Radaelli, Marta; Martinelli Boneschi, Filippo; Filippi, Massimo; Maltecca, Francesca; Bassi, Maria Teresa; Scarlato, Marina
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions
2019-01-01 Bettegazzi, B.; Pelizzoni, I.; Scarzella, F. S.; Restelli, L. M.; Zacchetti, D.; Maltecca, F.; Casari, G.; Grohovaz, F.; Codazzi, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. | 1-gen-2004 | Bruni, Ac; Takahashi Fujigasaki, J; Maltecca, Francesca; El Hachimi, Kh; Servadio, A; Casari, GIORGIO NEVIO; Maletta, R; Curcio, Sa; De Michele, G; Filla, S; Foncin, Jf; Duyckaerts, C. | |
| Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 | 1-gen-2003 | De Michele, G; Maltecca, Francesca; Carella, M; Volpe, G; Orio, M; De Falco, A; Gombia, S; Servadio, A; Casari, GIORGIO NEVIO; Filla, A; Bruni, A. | |
| Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways | 1-gen-2013 | Mancini, C; Roncaglia, P; Brussino, A; Stevanin, G; Lo Buono, N; Krmac, H; Maltecca, Francesca; Gazzano, E; Stella, Ab; Calvaruso, Ma; Iommarini, L; Cagnoli, C; Forlani, S; Le Ber, I; Durr, A; Brice, A; Ghigo, D; Casari, GIORGIO NEVIO; Porcelli, Am; Funaro, A; Gasparre, G; Gustincich, S; Brusco, A. | |
| Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration | 1-gen-2009 | Maltecca, Francesca; Magnoni, R; Cerri, F; Cox, Ga; Quattrini, A; Casari, GIORGIO NEVIO | |
| Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation | 1-gen-2019 | Longo, Fabiana; Benedetti, Sara; Zambon, Alberto A; Sora, Maria Grazia Natali; Di Resta, Chiara; De Ritis, Daniele; Quattrini, Angelo; Maltecca, Francesca; Ferrari, Maurizio; Previtali, Stefano Carlo | |
| In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. | 1-gen-2010 | Maltecca, Francesca; Casari, GIORGIO NEVIO | |
| Intergenerational instability and marked anticipation in SCA-17 | 1-gen-2003 | Maltecca, Francesca; Filla, A; Castaldo, I; Coppola, G; Fragassi, Na; Carella, M; Bruni, A; Cocozza, S; Casari, GIORGIO NEVIO; Servadio, A; De Michele, G. | |
| Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice | 1-gen-2013 | Magnoni, R; Palmfeldt, J; Christensen, Jh; Sand, M; Maltecca, Francesca; Corydon, Tj; West, M; Casari, GIORGIO NEVIO; Bross, P. | |
| m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics | 1-gen-2018 | Consolato, Francesco; Maltecca, Francesca; Tulli, Susanna; Sambri, Irene; Casari, Giorgio | |
| Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity | 1-gen-2019 | Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo | |
| Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation | 1-gen-2019 | Tulli, S.; Del Bondio, A.; Baderna, V.; Mazza, D.; Codazzi, F.; Pierson, T. M.; Ambrosi, A.; Nolte, D.; Goizet, C.; Toro, C.; Baets, J.; Deconinck, T.; Dejonghe, P.; Mandich, P.; Casari, G.; Maltecca, F. | |
| Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model | 1-gen-2015 | Maltecca, Francesca; Baseggio, E; Consolato, F; Mazza, D; Podini, P; Young SM, Jr; Drago, I; Bahr, Ba; Puliti, A; Codazzi, F; Quattrini, A; Casari, GIORGIO NEVIO | |
| Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay | 1-gen-2024 | De Ritis, Daniele; Ferrè, Laura; De Winter, Jonathan; Tremblay-Desbiens, Clémence; Blais, Mathieu; Bassi, Maria Teresa; Dupré, Nicolas; Baets, Jonathan; Filippi, Massimo; Maltecca, Francesca | |
| Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation | 1-gen-2012 | Maltecca, Francesca; De Stefani, D; Cassina, L; Consolato, F; Wasilewski, M; Scorrano, L; Rizzuto, R; Casari, GIORGIO NEVIO | |
| The mitochondrial protease AFG3L2 is essential for axonal development | 1-gen-2008 | Maltecca, Francesca; Aghaie, A; Schroeder, Dg; Cassina, L; Taylor, Ba; Phillips, Sj; Malaguti, M; Previtali, S; Guenet, Jl; Quattrini, A; Cox, Ga; Casari, GIORGIO NEVIO | |
| U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene | 1-gen-2021 | Sferruzza, Giacomo; Del Bondio, Andrea; Citterio, Andrea; Vezzulli, Paolo; Guerrieri, Simone; Radaelli, Marta; Martinelli Boneschi, Filippo; Filippi, Massimo; Maltecca, Francesca; Bassi, Maria Teresa; Scarlato, Marina | |
| Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions | 1-gen-2019 | Bettegazzi, B.; Pelizzoni, I.; Scarzella, F. S.; Restelli, L. M.; Zacchetti, D.; Maltecca, F.; Casari, G.; Grohovaz, F.; Codazzi, F. |