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Alberto Casarin

Research Profile

Chemicals & Drugs

Physiology

Disorders

Argininosuccinic Aciduria

Anatomy

Procedures

Living Beings

Genes & Molecular Sequences

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Publications

TOP 3
Marco Spinazzi; Alberto Casarin; Vanessa Pertegato; Leonardo Salviati; Corrado Angelini
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.
Leonardo Salviati; Carlos Santos-Ocaña; Geppo Sartori; Eva Trevisson; Orsetta Zuffardi; Vanessa Pertegato; Catarina M Quinzii; Maria Angeles Rodriguez Hernandez; Sabrina Sacconi; Caterina Agosto; Rafael Artuch; Alberto Casarin; Matteo Cassina; Maria Andrea Desbats; Salvatore DiMauro; Mara Doimo; Michio Hirano; Luigi Memo; Plácido Navas
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Alberto Casarin; Matteo Cassina; Cristina Cerqua; Maurizio Clementi; Salvatore DiMauro; Mara Doimo; Gianpietro Giorgi; Mercy M Davidson; Vanessa Pertegato; Rosario Rizzuto; Sabrina Sacconi; Giuseppe Basso; Sonja Brosel; Eric A Schon; Roberta Siviero; Eva Trevisson; Leonardo Salviati
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.

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All Publications

2012: Marco Spinazzi; Alberto Casarin; Vanessa Pertegato; Leonardo Salviati; Corrado Angelini
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.
Nature protocols 2012;7(6):1235-46.
2012: Leonardo Salviati; Carlos Santos-Ocaña; Geppo Sartori; Eva Trevisson; Orsetta Zuffardi; Vanessa Pertegato; Catarina M Quinzii; Maria Angeles Rodriguez Hernandez; Sabrina Sacconi; Caterina Agosto; Rafael Artuch; Alberto Casarin; Matteo Cassina; Maria Andrea Desbats; Salvatore DiMauro; Mara Doimo; Michio Hirano; Luigi Memo; Plácido Navas
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Journal of medical genetics 2012;49(3):187-91.
2012: Alberto Casarin; Matteo Cassina; Cristina Cerqua; Maurizio Clementi; Salvatore DiMauro; Mara Doimo; Gianpietro Giorgi; Mercy M Davidson; Vanessa Pertegato; Rosario Rizzuto; Sabrina Sacconi; Giuseppe Basso; Sonja Brosel; Eric A Schon; Roberta Siviero; Eva Trevisson; Leonardo Salviati
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Orphanet journal of rare diseases 2012;7():21.
2012: Sabrina Sacconi; Leonardo Salviati; Jean Christophe Antoine; Rafaelle Bernard; Alberto Casarin; Ana Maria Cobo; Claude Desnuelle; Léonard Féasson; Christophe Pécheux; Andoni Urtizberea
A novel CRYAB mutation resulting in multisystemic disease.
Neuromuscular disorders : NMD 2012;22(1):66-72.
2011: Marilena Vecchi; Alberto Casarin; Matteo Cassina; Luca De Palma; Paola Drigo; Chiara Rigon; Maurizio Clementi
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A.
Seizure : the journal of the British Epilepsy Association 2011;20(10):813-6.
2011: Marco Spinazzi; Alberto Casarin; Mario Ermani; Vanessa Pertegato; Leonardo Salviati; Corrado Angelini
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.
Mitochondrion 2011;11(6):893-904.
2011: Irene Toldo; Pasquale Montagna; Leonardo Salviati; Stefano Sartori; Pier Antonio Battistella; Clementina Boniver; Alice Bruson; Alberto Casarin; Maurizio Clementi
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
The journal of headache and pain 2011;12(4):435-41.
2010: Monica Forzan; Leonardo Salviati; Vanessa Pertegato; Alberto Casarin; Alice Bruson; Eva Trevisson; Elena Di Gianantonio; Maurizio Clementi
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Journal of human genetics 2010;55(1):23-6.
2009: Alberto Casarin; Francesca Rusalen; Mara Doimo; Eva Trevisson; Silvia Carraro; Maurizio Clementi; Romano Tenconi; Eugenio Baraldi; Leonardo Salviati
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.
American journal of medical genetics. Part A 2009;149A(11):2464-8.
2009: Eva Trevisson; Alberto Burlina; Mara Doimo; Vanessa Pertegato; Alberto Casarin; Luca Cesaro; Plácido Navas; Giuseppe Basso; Geppo Sartori; Leonardo Salviati
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
The Journal of biological chemistry 2009;284(42):28926-34.
2008: Marco Spinazzi; Silvia Cazzola; Mario Bortolozzi; Alessandra Baracca; Emanuele Loro; Alberto Casarin; Giancarlo Solaini; Gianluca Sgarbi; Gabriella Casalena; Giovanna Cenacchi; Adriana Malena; Christian Frezza; Franco Carrara; Corrado Angelini; LUCA SCORRANO; Leonardo Salviati; Lodovica Vergani
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Human molecular genetics 2008;17(21):3291-302.
2008: Eva Trevisson; Leonardo Salviati; Maria Cristina Baldoin; Alberto Casarin; Giuseppe Basso; Alberto Burlina
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Human genetics 2008;124(3):303.
2008: Eva Trevisson; Leonardo Salviati; Maria Cristina Baldoin; Alberto Casarin; Giuseppe Basso; Alberto Burlina
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Human genetics 2008;124(3):303.
2008: Stefano Sartori; Laura Anesi; Roberta Polli; Irene Toldo; Alberto Casarin; Paola Drigo; Alessandra Murgia
Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
Journal of child neurology 2008;23(8):912-5.
2008: Alberto Casarin; Jose Carlos Jimenez-Ortega; Eva Trevisson; Vanessa Pertegato; Mara Doimo; Maria Lara Ferrero-Gomez; Sara Abbadi; Rafael Artuch; Catarina M Quinzii; Michio Hirano; Giuseppe Basso; Carlos Santos Ocaña; Plácido Navas; Leonardo Salviati
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
Biochemical and biophysical research communications 2008;372(1):35-9.
2008: Kai Stefan Dimmer; Francesca Navoni; Alberto Casarin; Eva Trevisson; Sabine Endele; Andreas Winterpacht; Leonardo Salviati; LUCA SCORRANO
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
Human molecular genetics 2008;17(2):201-14.
2007: Eva Trevisson; Leonardo Salviati; Maria Cristina Baldoin; Irene Toldo; Alberto Casarin; Sabrina Sacconi; Luca Cesaro; Giuseppe Basso; Alberto Burlina
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Human mutation 2007;28(7):694-702.
2006: Maddalena Martella; Leonardo Salviati; Alberto Casarin; Eva Trevisson; Giuseppe Opocher; Roberta Polli; David Gross; Alessandra Murgia
Molecular analysis of two uncharacterized sequence variants of the VHL gene.
Journal of human genetics 2006;51(11):964-8.
2006: Alberto Casarin; Maddalena Martella; Roberta Polli; Emanuela Leonardi; Laura Anesi; Alessandra Murgia
Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements.
Molecular diagnosis & therapy 2006;10(4):243-9.
2005: Maria Luigia Randi; Alessandra Murgia; Maria Caterina Putti; Maddalena Martella; Alberto Casarin; Giuseppe Opocher; Fabrizio Fabris
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.
Haematologica 2005;90(5):689-91.