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1.
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Hum Mol Genet;
31(5): 761-774, 2022 03 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34559197
2.
Recombinant protein delivery enables modulation of the phototransduction cascade in mouse retina.
Cell Mol Life Sci;
80(12): 371, 2023 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38001384
3.
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding.
Hum Genet;
2023 Dec 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38153589
4.
Alterations in calmodulin-cardiac ryanodine receptor molecular recognition in congenital arrhythmias.
Cell Mol Life Sci;
79(2): 127, 2022 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35133504
5.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Int J Mol Sci;
24(3)2023 Jan 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-36769033
6.
Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.
J Biol Chem;
296: 100619, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33812995
7.
Simultaneous detection of reciprocal interactions between calmodulin, Ca2+ and molecular targets: a focus on the calmodulin-RyR2 complex.
Biochem J;
478(3): 487-491, 2021 02 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33544125
8.
Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides.
Int J Mol Sci;
23(7)2022 Mar 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35408910
9.
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
Int J Mol Sci;
23(6)2022 Mar 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35328663
10.
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Int J Mol Sci;
22(8)2021 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-33919796
11.
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Int J Mol Sci;
22(4)2021 Feb 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33669876
12.
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Int J Mol Sci;
22(19)2021 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34639157
13.
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.
Hum Mol Genet;
27(24): 4204-4217, 2018 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30184081
14.
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.
Int J Mol Sci;
21(3)2020 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-31979372
15.
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Int J Mol Sci;
22(1)2020 Dec 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33396523
16.
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.
Int J Mol Sci;
21(17)2020 Aug 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-32872468
17.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Hum Mutat;
40(12): 2286-2295, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31397523
18.
Molecular Recognition of Rhodopsin Kinase GRK1 and Recoverin Is Tuned by Switching Intra- and Intermolecular Electrostatic Interactions.
Biochemistry;
58(43): 4374-4385, 2019 10 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-31621304
19.
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Hum Mol Genet;
26(1): 133-144, 2017 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28025326
20.
Effects of Membrane and Biological Target on the Structural and Allosteric Properties of Recoverin: A Computational Approach.
Int J Mol Sci;
20(20)2019 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31658639