GIACOPUZZI, Edoardo
GIACOPUZZI, Edoardo
Dipartimento di Medicina Molecolare e Traslazionale
A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme
2018-01-01 Magri, Chiara; Giacopuzzi, Edoardo; LA VIA, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, MOHAMMED ELHUSSINY ALI; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
2018-01-01 Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles
2021-01-01 Magri, C.; Giacopuzzi, E.; Sacco, C.; Bocchio-Chiavetto, L.; Minelli, A.; Gennarelli, M.
Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies
2016-01-01 Damiati, Eufemia; Borsani, Giuseppe; Giacopuzzi, Edoardo
Analysis of Citalopram response heterogeneity among STAR*D patients using in-silico methods
2019-01-01 Shoaib, Muhammad; Giacopuzzi, Edoardo; Magri, Chiara; Vitali, Erika; Minelli, Alessandra; Gennarelli, Massimo
Analysis of human exome and genome using the Ion Proton platform
2014-01-01 Giacopuzzi, Edoardo
Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.
2013-01-01 Benini, Anna; Bozzato, Andrea; Mantovanelli, S; Calvarini, Laura; Giacopuzzi, Edoardo; Bresciani, Roberto; Moleri, S; Zizioli, Daniela; Beltrame, M; Borsani, Giuseppe
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing
2017-01-01 Ritelli, Marco; Palit, Aparna; Giacopuzzi, Edoardo; Inamadar, Arun C.; Dordoni, Chiara; Mujja, Ajay; Murgude, Meghana S.; Colombi, Marina
Clinical validation of a combinatorial PharmAcogeNomic approach in major Depressive disorder: an Observational prospective RAndomized, participant and rater-blinded, controlled trial (PANDORA trial)
2021-01-01 Minelli, A.; Barlati, S.; Vitali, E.; Bignotti, S.; Dattilo, V.; Tura, G. B.; Maffioletti, E.; Giacopuzzi, E.; Santoro, V.; Perusi, G.; Cobelli, C.; Magri, C.; Bonizzato, S.; Bocchio-Chiavetto, L.; Spina, E.; Vita, A.; Gennarelli, M.
Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model
2015-01-01 Guarienti, Michela; Giacopuzzi, Edoardo; Gianoncelli, Alessandra; Sigala, Sandra; Spano, Pier Franco; Pecorelli, Sergio; Pani, Luca; Memo, Maurizio
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain
2018-01-01 Filippini, Alice; Bonini, Daniela; Giacopuzzi, Edoardo; La Via, Luca; Gangemi, Fabrizio; Colombi, Marina; Barbon, Alessandro
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
2017-01-01 Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways
2017-01-01 Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara
Exome sequencing of schizophrenia patients with high level of homozygosity identifies a homozygous novel mutation that reduces the glutamate acid decarboxylase 67 (GAD67) activity
2016-01-01 Magri, Chiara; Giacopuzzi, Edoardo; Barbon, Alessandro; LA VIA, Luca; Mingardi, J; Congiu, Chiara; Orizio, Flavia; Bresciani, Roberto; Sacchetti, Emilio; Gennarelli, Massimo
Flk-1/KDR and v3 recruitment and cross-talk at the basal aspect of HIV-1 Tat-adherent endothelial cells drives pp60src/ERK1/2 activation, cytoskeleton organization and pro-angiogenic activation
2010-01-01 Urbinati, Chiara Eva; Ravelli, Cosetta; Giacopuzzi, Edoardo; Monti, Eugenio; Rusnati, Marco
Functional study of a novel homozygous mutation in the GAD1 gene, detected in a patient with schizophrenia.
2017-01-01 Magri, Chiara; Giacopuzzi, Edoardo; Barbon, Alessandro; La Via, Luca; Congiu, Chiara; Orizio, Flavia; Ferraboli, Sergio; Bresciani, Roberto; Borsani, Giuseppe; Sacchetti, Emilio; Gennarelli, Massimo
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes
2019-01-01 Ritelli, M.; Cinquina, V.; Giacopuzzi, E.; Venturini, M.; Chiarelli, N.; Colombi, M.
Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops
2011-01-01 Giacopuzzi, Edoardo; Barlati, Sergio; Preti, Augusto; Venerando, B; Monti, Eugenio; Borsani, Giuseppe; Bresciani, Roberto
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS
2018-01-01 Ravasio, V.; Ritelli, M.; Legati, A.; Giacopuzzi, E.
Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables
2018-01-01 Giacopuzzi, Edoardo; Gennarelli, Massimo; Sacco, Chiara; Filippini, Alice; Mingardi, Jessica; Magri, Chiara; Barbon, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme | 1-gen-2018 | Magri, Chiara; Giacopuzzi, Edoardo; LA VIA, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, MOHAMMED ELHUSSINY ALI; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo | |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations | 1-gen-2018 | Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco | |
| Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles | 1-gen-2021 | Magri, C.; Giacopuzzi, E.; Sacco, C.; Bocchio-Chiavetto, L.; Minelli, A.; Gennarelli, M. | |
| Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies | 1-gen-2016 | Damiati, Eufemia; Borsani, Giuseppe; Giacopuzzi, Edoardo | |
| Analysis of Citalopram response heterogeneity among STAR*D patients using in-silico methods | 1-gen-2019 | Shoaib, Muhammad; Giacopuzzi, Edoardo; Magri, Chiara; Vitali, Erika; Minelli, Alessandra; Gennarelli, Massimo | |
| Analysis of human exome and genome using the Ion Proton platform | 1-gen-2014 | Giacopuzzi, Edoardo | |
| Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. | 1-gen-2013 | Benini, Anna; Bozzato, Andrea; Mantovanelli, S; Calvarini, Laura; Giacopuzzi, Edoardo; Bresciani, Roberto; Moleri, S; Zizioli, Daniela; Beltrame, M; Borsani, Giuseppe | |
| Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing | 1-gen-2017 | Ritelli, Marco; Palit, Aparna; Giacopuzzi, Edoardo; Inamadar, Arun C.; Dordoni, Chiara; Mujja, Ajay; Murgude, Meghana S.; Colombi, Marina | |
| Clinical validation of a combinatorial PharmAcogeNomic approach in major Depressive disorder: an Observational prospective RAndomized, participant and rater-blinded, controlled trial (PANDORA trial) | 1-gen-2021 | Minelli, A.; Barlati, S.; Vitali, E.; Bignotti, S.; Dattilo, V.; Tura, G. B.; Maffioletti, E.; Giacopuzzi, E.; Santoro, V.; Perusi, G.; Cobelli, C.; Magri, C.; Bonizzato, S.; Bocchio-Chiavetto, L.; Spina, E.; Vita, A.; Gennarelli, M. | |
| Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model | 1-gen-2015 | Guarienti, Michela; Giacopuzzi, Edoardo; Gianoncelli, Alessandra; Sigala, Sandra; Spano, Pier Franco; Pecorelli, Sergio; Pani, Luca; Memo, Maurizio | |
| Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain | 1-gen-2018 | Filippini, Alice; Bonini, Daniela; Giacopuzzi, Edoardo; La Via, Luca; Gangemi, Fabrizio; Colombi, Marina; Barbon, Alessandro | |
| Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA | 1-gen-2017 | Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco | |
| Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways | 1-gen-2017 | Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara | |
| Exome sequencing of schizophrenia patients with high level of homozygosity identifies a homozygous novel mutation that reduces the glutamate acid decarboxylase 67 (GAD67) activity | 1-gen-2016 | Magri, Chiara; Giacopuzzi, Edoardo; Barbon, Alessandro; LA VIA, Luca; Mingardi, J; Congiu, Chiara; Orizio, Flavia; Bresciani, Roberto; Sacchetti, Emilio; Gennarelli, Massimo | |
| Flk-1/KDR and v3 recruitment and cross-talk at the basal aspect of HIV-1 Tat-adherent endothelial cells drives pp60src/ERK1/2 activation, cytoskeleton organization and pro-angiogenic activation | 1-gen-2010 | Urbinati, Chiara Eva; Ravelli, Cosetta; Giacopuzzi, Edoardo; Monti, Eugenio; Rusnati, Marco | |
| Functional study of a novel homozygous mutation in the GAD1 gene, detected in a patient with schizophrenia. | 1-gen-2017 | Magri, Chiara; Giacopuzzi, Edoardo; Barbon, Alessandro; La Via, Luca; Congiu, Chiara; Orizio, Flavia; Ferraboli, Sergio; Bresciani, Roberto; Borsani, Giuseppe; Sacchetti, Emilio; Gennarelli, Massimo | |
| Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes | 1-gen-2019 | Ritelli, M.; Cinquina, V.; Giacopuzzi, E.; Venturini, M.; Chiarelli, N.; Colombi, M. | |
| Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops | 1-gen-2011 | Giacopuzzi, Edoardo; Barlati, Sergio; Preti, Augusto; Venerando, B; Monti, Eugenio; Borsani, Giuseppe; Bresciani, Roberto | |
| GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS | 1-gen-2018 | Ravasio, V.; Ritelli, M.; Legati, A.; Giacopuzzi, E. | |
| Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables | 1-gen-2018 | Giacopuzzi, Edoardo; Gennarelli, Massimo; Sacco, Chiara; Filippini, Alice; Mingardi, Jessica; Magri, Chiara; Barbon, Alessandro |