Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Daniele, Dell'Orco"'
Autor:
Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid subst
Externí odkaz:
https://doaj.org/article/8ed648043ce34aba9586e83dd5fbdd7c
Autor:
Tiziana Sanavia, Paola Turina, Silvia Morante, Valerio Consalvi, Arthur M. Lesk, Constantina Bakolitsa, Daniele Dell'Orco
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/c72a524a5e7f42f485febcbd61f0b19a
Calmodulin variants associated with congenital arrhythmia impair selectivity for ryanodine receptors
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2023)
Among its many molecular targets, the ubiquitous calcium sensor protein calmodulin (CaM) recognizes and regulates the activity of ryanodine receptors type 1 (RyR1) and 2 (RyR2), mainly expressed in skeletal and cardiac muscle, respectively. Such regu
Externí odkaz:
https://doaj.org/article/588cee9fd4c74739bddef9e761f9be66
A hybrid stochastic/deterministic model of single photon response and light adaptation in mouse rods
Autor:
Charlotte Johanna Beelen, Sabrina Asteriti, Lorenzo Cangiano, Karl-Wilhelm Koch, Daniele Dell'Orco
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 3720-3734 (2021)
The phototransduction cascade is paradigmatic for signaling pathways initiated by G protein-coupled receptors and is characterized by a fine regulation of photoreceptor sensitivity and electrical response to a broad range of light stimuli. Here, we p
Externí odkaz:
https://doaj.org/article/dfc8fbd2104e4d029ea6324798957ca3
Publikováno v:
Open Biology, Vol 11, Iss 1 (2021)
The prototypical Ca2+-sensor protein recoverin (Rec) is thought to regulate the activity of rhodopsin kinase (GRK1) in photoreceptors by switching from a relaxed (R) disc membrane-bound conformation in the dark to a more compact, cytosol-diffusing te
Externí odkaz:
https://doaj.org/article/fdf1f36d3f27424cb810187ad7668edd
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Externí odkaz:
https://doaj.org/article/f366eaf2841b4523ba8f361c068d8b88
Autor:
Valerio Marino, Daniele Dell'Orco
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Neuronal Calcium Sensors (NCS) are highly conserved proteins specifically expressed in neurons. Calcium (Ca2+)-binding to their EF-hand motifs results in a conformational change, which is crucial for the recognition of a specific target and the downs
Externí odkaz:
https://doaj.org/article/2aee4a9b05454a4eb82a7d5bb40241b5
Autor:
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh
Publikováno v:
International Journal of Molecular Sciences
Volume 24
Issue 3
Pages: 2709
Volume 24
Issue 3
Pages: 2709
Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2746126ceb36cd7084c45e21ba2a94de
https://hdl.handle.net/11562/1085998
https://hdl.handle.net/11562/1085998
Autor:
Francesco Bonì, Valerio Marino, Carlo Bidoia, Eloise Mastrangelo, Alberto Barbiroli, Daniele Dell’Orco, Mario Milani
Publikováno v:
Biomolecules, Vol 10, Iss 10, p 1408 (2020)
The guanylyl cyclase-activating protein 1, GCAP1, activates or inhibits retinal guanylyl cyclase (retGC) depending on cellular Ca2+ concentrations. Several point mutations of GCAP1 have been associated with impaired calcium sensitivity that eventuall
Externí odkaz:
https://doaj.org/article/7980caf8e31f4ccc89f69f09bdaa2473