F. Maltecca

发表

In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria.

G. Casari, F. Maltecca, 2010, Methods in molecular biology.

Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay

F. Santorelli, S. Biffo, J. Baets, 2021, bioRxiv.

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

J. Guénet, B. Taylor, G. Casari, 2008, The Journal of Neuroscience.

Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions

G. Casari, F. Codazzi, F. Grohovaz, 2019, Oxidative medicine and cellular longevity.

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

S. Gustincich, A. Durr, S. Forlani, 2013, BMC Medical Genomics.

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

P. Bross, M. West, J. Christensen, 2013, Neurobiology of Disease.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

T. Pierson, C. Toro, D. Mazza, 2019, Journal of Medical Genetics.

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

F. Tempia, S. Geuna, E. Donetti, 2018, Neurobiology of Disease.

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.

B. Bahr, D. Mazza, G. Casari, 2015, The Journal of clinical investigation.

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

L. Scorrano, R. Rizzuto, G. Casari, 2012, Human molecular genetics.

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

G. Casari, A. Quattrini, G. Cox, 2009, The Journal of Neuroscience.

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.

Charles Duyckaerts, Giorgio Casari, Pio D'Adamo, 2004, Archives of neurology.

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics

G. Casari, Irene Sambri, Francesco Consolato, 2018, Journal of Cell Science.

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

B. Thompson, L. Kearns, J. Ruddle, 2020, Acta Neuropathologica Communications.

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

C. Di Resta, S. Benedetti, M. Ferrari, 2019, Human molecular genetics.

Intergenerational instability and marked anticipation in SCA-17

G. Coppola, G. De Michele, A. Filla, 2003, Neurology.

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17

G. De Michele, A. Filla, A. Bruni, 2003, Neurological Sciences.

Assessment of Sacsin Turnover in Patients With ARSACS

F. Santorelli, S. Biffo, J. Baets, 2021, Neurology.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

B. Brais, P. Giunti, B. Gentil, 2017, Human molecular genetics.

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model

B. Brais, P. Podini, A. Bachi, 2023, JCI insight.

The WRB Subunit of the Get3 Receptor is Required for the Correct Integration of its Partner CAML into the ER

S. Colombo, N. Borgese, H. J. F. Carvalho, 2019, Scientific Reports.

SETD5 haploinsufficiency affects mitochondrial compartment in neural cells

V. Broccoli, P. Podini, Alessandro Sessa, 2023, Molecular Autism.

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

F. Tempia, S. Geuna, E. Donetti, 2019, Neurobiology of Disease.