Sfoglia per Autore
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1
2017-01-01 Vocke, Farina; Weisschuh, Nicole; Marino, Valerio; Malfatti, Silvia; Jacobson, Samuel G; Reiff, Charlotte M; Dell'Orco, Daniele; Koch, Karl Wilhelm
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors
2018-01-01 Marino, Valerio; Dal Cortivo, Giuditta; Oppici, Elisa; Maltese, Paolo Enrico; D'Esposito, Fabiana; Manara, Elena; Ziccardi, Lucia; Falsini, Benedetto; Magli, Adriano; Bertelli, Matteo; Dell'Orco, Daniele
Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2)
2019-01-01 Dal Cortivo, Giuditta; Marino, Valerio; Iacobucci, Claudio; Vallone, Rosario; Arlt, Christian; Rehkamp, Anne; Sinz, Andrea; Dell'Orco, Daniele
Evolutionary-conserved allosteric properties of three neuronal calcium sensor proteins
2019-01-01 Marino, Valerio; Dell'Orco, Daniele
Effects of membrane and biological target on the structural and allosteric properties of recoverin: a computational approach
2019-01-01 Borsatto, Alberto; Marino, Valerio; Abrusci, Gianfranco; Lattanzi, Gianluca; Dell'Orco, Daniele
Molecular recognition of rhodopsin kinase GRK1 and recoverin is tuned by switching intra- and intermolecular electrostatic interactions
2019-01-01 Abbas, Seher; Marino, Valerio; Dell'Orco, Daniele; Koch, Karl-Wilhelm
Modulation of guanylate cyclase activating protein 1 (GCAP1) dimeric assembly by Ca2+ or Mg2+: hints to understand protein activity
2020-01-01 Bonì, Francesco; Marino, Valerio; Bidoia, Carlo; Mastrangelo, Eloise; Barbiroli, Alberto; Dell'Orco, Daniele; Milani, Mario
Aldo-Keto Reductase 1C1 (AKR1C1) as the first mutated gene in a family with nonsyndromic primary lipedema
2020-01-01 Michelini, Sandro; Chiurazzi, Pietro; Marino, Valerio; Dell'Orco, Daniele; Manara, Elena; Baglivo, Mirko; Fiorentino, Alessandro; Maltese, Paolo Enrico; Pinelli, Michele; Herbst, Karen Louise; Dautaj, Astrit; Bertelli, Matteo
Missense mutations affecting Ca2+-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties
2020-01-01 Dal Cortivo, Giuditta; Marino, Valerio; Bonì, Francesco; Milani, Mario; Dell'Orco, Daniele
New age-related hearing loss candidate genes in humans: an ongoing challenge
2020-01-01 Di Stazio, M; Morgan, A; Brumat, M; Bassani, S; Dell'Orco, D; Marino, V; Garagnani, P; Giuliani, C; Gasparini, P; Girotto, G
Constitutive activation of guanylate cyclase by the G86R GCAP1 variant is due to "locking" cation-π interactions that impair the activator-to-inhibitor structural transition
2020-01-01 Abbas, Seher; Marino, Valerio; Bielefeld, Laura; Koch, Karl-Wilhelm; Dell'Orco, Daniele
Neuronal calcium sensor GCAP1 encoded by GUCA1A exhibits heterogeneous functional properties in two cases of Retinitis Pigmentosa
2020-01-01 Abbas, Seher; Marino, Valerio; Weisschuh, Nicole; Kieninger, Sinja; Solaki, Maria; Dell'Orco, Daniele; Koch, Karl-Wilhelm
Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R
2021-01-01 Avesani, Anna; Marino, Valerio; Zanzoni, Serena; Koch, Karl-Wilhelm; Dell'Orco, Daniele
Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel C1QTNF5 missense variant
2021-01-01 Kellner, Ulrich; Weisschuh, Nicole; Weinitz, Silke; Farmand, Ghazaleh; Deutsch, Sebastian; Kortüm, Friederike; Mazzola, Pascale; Schäferhoff, Karin; Marino, Valerio; Dell’Orco, Daniele
Bringing the Ca2+ sensitivity of myristoylated recoverin into the physiological range
2021-01-01 Marino, Valerio; Riva, Matteo; Zamboni, Davide; Koch, Karl-Wilhelm; Dell'Orco, Daniele
Impaired Ca2+ sensitivity of a novel GCAP1 variant causes cone dystrophy and leads to abnormal synaptic transmission between photoreceptors and bipolar cells
2021-01-01 Marino, Valerio; Dal Cortivo, Giuditta; Maltese, Paolo Enrico; Placidi, Giorgio; De Siena, Elisa; Falsini, Benedetto; Bertelli, Matteo; Dell'Orco, Daniele
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase
2021-01-01 Biasi, Amedeo; Marino, Valerio; Dal Cortivo, Giuditta; Maltese, Paolo Enrico; Modarelli, Antonio Mattia; Bertelli, Matteo; Colombo, Leonardo; Dell'Orco, Daniele
Expanding the clinical and genetic spectrum of RAB28-related cone-rod dystrophy: pathogenicity of novel variants in Italian families
2021-01-01 Iarossi, Giancarlo; Marino, Valerio; Maltese, Paolo Enrico; Colombo, Leonardo; D'Esposito, Fabiana; Manara, Elena; Dhuli, Kristjana; Modarelli, Antonio Mattia; Cennamo, Gilda; Magli, Adriano; Dell'Orco, Daniele; Bertelli, Matteo
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1 | 1-gen-2017 | Vocke, Farina; Weisschuh, Nicole; Marino, Valerio; Malfatti, Silvia; Jacobson, Samuel G; Reiff, Charlotte M; Dell'Orco, Daniele; Koch, Karl Wilhelm | |
| A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors | 1-gen-2018 | Marino, Valerio; Dal Cortivo, Giuditta; Oppici, Elisa; Maltese, Paolo Enrico; D'Esposito, Fabiana; Manara, Elena; Ziccardi, Lucia; Falsini, Benedetto; Magli, Adriano; Bertelli, Matteo; Dell'Orco, Daniele | |
| Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2) | 1-gen-2019 | Dal Cortivo, Giuditta; Marino, Valerio; Iacobucci, Claudio; Vallone, Rosario; Arlt, Christian; Rehkamp, Anne; Sinz, Andrea; Dell'Orco, Daniele | |
| Evolutionary-conserved allosteric properties of three neuronal calcium sensor proteins | 1-gen-2019 | Marino, Valerio; Dell'Orco, Daniele | |
| Effects of membrane and biological target on the structural and allosteric properties of recoverin: a computational approach | 1-gen-2019 | Borsatto, Alberto; Marino, Valerio; Abrusci, Gianfranco; Lattanzi, Gianluca; Dell'Orco, Daniele | |
| Molecular recognition of rhodopsin kinase GRK1 and recoverin is tuned by switching intra- and intermolecular electrostatic interactions | 1-gen-2019 | Abbas, Seher; Marino, Valerio; Dell'Orco, Daniele; Koch, Karl-Wilhelm | |
| Modulation of guanylate cyclase activating protein 1 (GCAP1) dimeric assembly by Ca2+ or Mg2+: hints to understand protein activity | 1-gen-2020 | Bonì, Francesco; Marino, Valerio; Bidoia, Carlo; Mastrangelo, Eloise; Barbiroli, Alberto; Dell'Orco, Daniele; Milani, Mario | |
| Aldo-Keto Reductase 1C1 (AKR1C1) as the first mutated gene in a family with nonsyndromic primary lipedema | 1-gen-2020 | Michelini, Sandro; Chiurazzi, Pietro; Marino, Valerio; Dell'Orco, Daniele; Manara, Elena; Baglivo, Mirko; Fiorentino, Alessandro; Maltese, Paolo Enrico; Pinelli, Michele; Herbst, Karen Louise; Dautaj, Astrit; Bertelli, Matteo | |
| Missense mutations affecting Ca2+-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties | 1-gen-2020 | Dal Cortivo, Giuditta; Marino, Valerio; Bonì, Francesco; Milani, Mario; Dell'Orco, Daniele | |
| New age-related hearing loss candidate genes in humans: an ongoing challenge | 1-gen-2020 | Di Stazio, M; Morgan, A; Brumat, M; Bassani, S; Dell'Orco, D; Marino, V; Garagnani, P; Giuliani, C; Gasparini, P; Girotto, G | |
| Constitutive activation of guanylate cyclase by the G86R GCAP1 variant is due to "locking" cation-π interactions that impair the activator-to-inhibitor structural transition | 1-gen-2020 | Abbas, Seher; Marino, Valerio; Bielefeld, Laura; Koch, Karl-Wilhelm; Dell'Orco, Daniele | |
| Neuronal calcium sensor GCAP1 encoded by GUCA1A exhibits heterogeneous functional properties in two cases of Retinitis Pigmentosa | 1-gen-2020 | Abbas, Seher; Marino, Valerio; Weisschuh, Nicole; Kieninger, Sinja; Solaki, Maria; Dell'Orco, Daniele; Koch, Karl-Wilhelm | |
| Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R | 1-gen-2021 | Avesani, Anna; Marino, Valerio; Zanzoni, Serena; Koch, Karl-Wilhelm; Dell'Orco, Daniele | |
| Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel C1QTNF5 missense variant | 1-gen-2021 | Kellner, Ulrich; Weisschuh, Nicole; Weinitz, Silke; Farmand, Ghazaleh; Deutsch, Sebastian; Kortüm, Friederike; Mazzola, Pascale; Schäferhoff, Karin; Marino, Valerio; Dell’Orco, Daniele | |
| Bringing the Ca2+ sensitivity of myristoylated recoverin into the physiological range | 1-gen-2021 | Marino, Valerio; Riva, Matteo; Zamboni, Davide; Koch, Karl-Wilhelm; Dell'Orco, Daniele | |
| Impaired Ca2+ sensitivity of a novel GCAP1 variant causes cone dystrophy and leads to abnormal synaptic transmission between photoreceptors and bipolar cells | 1-gen-2021 | Marino, Valerio; Dal Cortivo, Giuditta; Maltese, Paolo Enrico; Placidi, Giorgio; De Siena, Elisa; Falsini, Benedetto; Bertelli, Matteo; Dell'Orco, Daniele | |
| A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase | 1-gen-2021 | Biasi, Amedeo; Marino, Valerio; Dal Cortivo, Giuditta; Maltese, Paolo Enrico; Modarelli, Antonio Mattia; Bertelli, Matteo; Colombo, Leonardo; Dell'Orco, Daniele | |
| Expanding the clinical and genetic spectrum of RAB28-related cone-rod dystrophy: pathogenicity of novel variants in Italian families | 1-gen-2021 | Iarossi, Giancarlo; Marino, Valerio; Maltese, Paolo Enrico; Colombo, Leonardo; D'Esposito, Fabiana; Manara, Elena; Dhuli, Kristjana; Modarelli, Antonio Mattia; Cennamo, Gilda; Magli, Adriano; Dell'Orco, Daniele; Bertelli, Matteo | |
| 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 |
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