Sfoglia per Autore
Alterations in calmodulin-cardiac ryanodine receptor molecular recognition in congenital arrhythmias
2022-01-01 Dal Cortivo, Giuditta; Barracchia, Carlo Giorgio; Marino, Valerio; D'Onofrio, Mariapina; Dell'Orco, Daniele
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms
2022-01-01 Weisschuh, Nicole; Marino, Valerio; Schäferhoff, Karin; Richter, Paul; Park, Joohyun; Haack, Tobias B; Dell'Orco, Daniele
Calmodulin variants associated with congenital arrhythmia impair selectivity for ryanodine receptors
2022-01-01 Dal Cortivo, Giuditta; Marino, Valerio; Bianconi, Silvia; Dell'Orco, Daniele
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding
2023-01-01 Dal Cortivo, Giuditta; Marino, Valerio; Zamboni, Davide; Dell'Orco, Daniele
Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina
2023-01-01 Asteriti, Sabrina; Marino, Valerio; Avesani, Anna; Biasi, Amedeo; Dal Cortivo, Giuditta; Cangiano, Lorenzo; Dell'Orco, Daniele
Biallelic variants in TULP1 are associated with heterogeneous phenotypes of retinal dystrophy
2023-01-01 Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B; Biskup, Saskia; Kohl, Susanne; Kühlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole
Ionic displacement of Ca2+ by Pb2+ in calmodulin is affected by arrhythmia-associated mutations
2023-01-01 Marino, Valerio; Cortivo, Giuditta Dal; Dell'Orco, Daniele
Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion
2024-01-01 Marino, Valerio; Phromkrasae, Wanchana; Bertacchi, Michele; Cassini, Paul; Chakrabandhu, Krittalak; Dell'Orco, Daniele; Studer, Michèle
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
2024-01-01 Bodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kühlewein, Laura
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Alterations in calmodulin-cardiac ryanodine receptor molecular recognition in congenital arrhythmias | 1-gen-2022 | Dal Cortivo, Giuditta; Barracchia, Carlo Giorgio; Marino, Valerio; D'Onofrio, Mariapina; Dell'Orco, Daniele | |
| Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms | 1-gen-2022 | Weisschuh, Nicole; Marino, Valerio; Schäferhoff, Karin; Richter, Paul; Park, Joohyun; Haack, Tobias B; Dell'Orco, Daniele | |
| Calmodulin variants associated with congenital arrhythmia impair selectivity for ryanodine receptors | 1-gen-2022 | Dal Cortivo, Giuditta; Marino, Valerio; Bianconi, Silvia; Dell'Orco, Daniele | |
| Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding | 1-gen-2023 | Dal Cortivo, Giuditta; Marino, Valerio; Zamboni, Davide; Dell'Orco, Daniele | |
| Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina | 1-gen-2023 | Asteriti, Sabrina; Marino, Valerio; Avesani, Anna; Biasi, Amedeo; Dal Cortivo, Giuditta; Cangiano, Lorenzo; Dell'Orco, Daniele | |
| Biallelic variants in TULP1 are associated with heterogeneous phenotypes of retinal dystrophy | 1-gen-2023 | Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B; Biskup, Saskia; Kohl, Susanne; Kühlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole | |
| Ionic displacement of Ca2+ by Pb2+ in calmodulin is affected by arrhythmia-associated mutations | 1-gen-2023 | Marino, Valerio; Cortivo, Giuditta Dal; Dell'Orco, Daniele | |
| Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion | 1-gen-2024 | Marino, Valerio; Phromkrasae, Wanchana; Bertacchi, Michele; Cassini, Paul; Chakrabandhu, Krittalak; Dell'Orco, Daniele; Studer, Michèle | |
| Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes | 1-gen-2024 | Bodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kühlewein, Laura |
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