Author

Masafumi Sasaki

Associate Professor of Biochemistry and Bioinformatics at the University of Verona - Cited by 2,294 - Department of Neurosciences - Biomedicine and Movement Science - Biological Chemistry

Biography

Masafumi Sasaki is working at Department of Mechanical Engineering, Kitami Institute of Technology, Kitami, Japan. His international experience includes various programs, contributions and participation in different countries for diverse fields of study. His research interests reflect in his wide range of publications in various national and international journals.
Title
Cited by
Year
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1
F Vocke, N Weisschuh, V Marino, S Malfatti, SG Jacobson, CM Reiff, ...Human molecular genetics 26 (1), 133-144, 2017201
32
2017
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger …
V Marino, G Dal Cortivo, E Oppici, PE Maltese, F D’Esposito, E Manara, ...Human Molecular Genetics 27 (24), 4204-4217, 2018201
31
2018
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema
S Michelini, P Chiurazzi, V Marino, D Dell’Orco, E Manara, M Baglivo, ...International journal of molecular sciences 21 (17), 6264, 2020202
31
2020
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
A Morgan, DC Koboldt, ES Barrie, ER Crist, G García García, ...Human mutation 40 (12), 2286-2295, 2019201
24
2019
23
2018
Effects of membrane and biological target on the structural and allosteric properties of recoverin: a computational approach
A Borsatto, V Marino, G Abrusci, G Lattanzi, D Dell’OrcoInternational journal of molecular sciences 20 (20), 5009, 2019201
13
2019
Fingerprints of calcium-binding protein conformational dynamics monitored by surface plasmon resonance
D Dell’Orco, KW KochACS chemical biology 11 (9), 2390-2397, 2016201
13
2016
Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa
S Abbas, V Marino, N Weisschuh, S Kieninger, M Solaki, D Dell’Orco, ...ACS Chemical Neuroscience 11 (), 1458-1470, 2020202
10
2020
Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca2+ or Mg2+: Hints to Understand Protein Activity
F Bonì, V Marino, C Bidoia, E Mastrangelo, A Barbiroli, D Dell’Orco, ...Biomolecules (), 1408, 2020202
10
2020
Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2)
G Dal Cortivo, V Marino, C Iacobucci, R Vallone, C Arlt, A Rehkamp, ...Scientific Reports (1), 15058, 20120
9
2019
SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans
A Morgan, G Pelliccione, U Ambrosetti, D Dell’Orco, G GirottoHearing, Balance and Communication 1 (2), 149-151, 2020202
8
2020
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
Expanding the Clinical and Genetic Spectrum of RAB2-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian FamiliesG Iarossi, V Marino, PE Maltese, L Colombo, F D’Esposito, E Manara, ...International Journal of Molecular Sciences 22 (1), 31, 2020202
8
2020
Luminescent and paramagnetic properties of nanoparticles shed light on their interactions with proteins
G Dal Cortivo, GE Wagner, P Cortelletti, KM Padmanabha Das, K Zangger, ...Scientific reports (1), 3420, 20120
8
2018
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant
U Kellner, N Weisschuh, S Weinitz, G Farmand, S Deutsch, F Kortüm, ...International journal of molecular sciences 22 (4), 2089, 2021202
6
2021
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
Constitutive activation of guanylate cyclase by the G8R GCAP1 variant is due to “locking” cation-π interactions that impair the activator-to-inhibitor structural transitionS Abbas, V Marino, L Bielefeld, KW Koch, D Dell’OrcoInternational Journal of Molecular Sciences 21 (3), 752, 2020202
6
2020
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms
N Weisschuh, V Marino, K Schäferhoff, P Richter, J Park, TB Haack, ...Human Molecular Genetics 31 (5), 71-774, 2022202
6
2022
Where vision begins
D Dell’Orco, KW Koch, G RispoliPflügers Archiv-European Journal of Physiology 473, 1333-1337, 2021202
5
2021