Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Valeria Marigo"'
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Retinitis pigmentosa (RP) is a form of retinal degeneration characterized by primary degeneration of rod photoreceptors followed by a secondary cone loss that leads to vision impairment and finally blindness. This is a rare disease with mutations in
Externí odkaz:
https://doaj.org/article/b02e167583334cd2baf172b8932c079c
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 6020-6038 (2021)
Failure of a protein to achieve its functional structural state and normal cellular location contributes to the etiology and pathology of heritable human conformational diseases. The autosomal dominant form of retinitis pigmentosa (adRP) is an incura
Externí odkaz:
https://doaj.org/article/6b05cf102d514fdb81a8be978d6899c1
Publikováno v:
Neural Regeneration Research, Vol 15, Iss 10, Pp 1784-1791 (2020)
Inherited retinal degeneration is a major cause of incurable blindness characterized by loss of retinal photoreceptor cells. Inherited retinal degeneration is characterized by high genetic and phenotypic heterogeneity with several genes mutated in pa
Externí odkaz:
https://doaj.org/article/bb1cc1474c01463c85ef6c3e27ed6d06
Autor:
Ilaria Ottonelli, Andrea Bighinati, Elisa Adani, François Loll, Riccardo Caraffi, Maria Angela Vandelli, Frank Boury, Giovanni Tosi, Jason Thomas Duskey, Valeria Marigo, Barbara Ruozi
Publikováno v:
Pharmaceutics, Vol 15, Iss 1, p 25 (2022)
A drawback in the development of treatments that can reach the retina is the presence of barriers in the eye that restrain compounds from reaching the target. Intravitreal injections hold promise for retinal delivery, but the natural defenses in the
Externí odkaz:
https://doaj.org/article/c6c2d3deb8b74808b640c4a0b3e61ce3
Autor:
Petra Behnen, Angelo Felline, Antonella Comitato, Maria Teresa Di Salvo, Francesco Raimondi, Sahil Gulati, Shirin Kahremany, Krzysztof Palczewski, Valeria Marigo, Francesca Fanelli
Publikováno v:
iScience, Vol 4, Iss , Pp 1-19 (2018)
Summary: The autosomal dominant form of retinitis pigmentosa (adRP) is a blindness-causing conformational disease largely linked to mutations of rhodopsin. Molecular simulations coupled to the graph-based protein structure network (PSN) analysis and
Externí odkaz:
https://doaj.org/article/92a2451fd7fc4c428a25f13873bf391a
Autor:
Li Huang, Erico Himawan, Soumaya Belhadj, Raúl Oswaldo Pérez García, François Paquet Durand, Nicolaas Schipper, Matej Buzgo, Aiva Simaite, Valeria Marigo
Publikováno v:
Pharmaceutics, Vol 14, Iss 1, p 74 (2021)
In this study, we developed a novel solid lipid nanoparticle (SLN) formulation for drug delivery of small hydrophilic cargos to the retina. The new formulation, based on a gel core and composite shell, allowed up to two-fold increase in the encapsula
Externí odkaz:
https://doaj.org/article/f4bd2441a579402997fb05d2a0ec51ae
Autor:
Maria Carmela Latella, Maria Teresa Di Salvo, Fabienne Cocchiarella, Daniela Benati, Giulia Grisendi, Antonella Comitato, Valeria Marigo, Alessandra Recchia
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
The bacterial CRISPR/Cas system has proven to be an efficient tool for genetic manipulation in various organisms. Here we show the application of CRISPR-Cas9 technology to edit the human Rhodopsin (RHO) gene in a mouse model for autosomal dominant Re
Externí odkaz:
https://doaj.org/article/8fda8009cdef4fc8810ef7ffdfe5511a
Publikováno v:
PLoS ONE, Vol 7, Iss 8 (2012)
Externí odkaz:
https://doaj.org/article/e68b07028c824d00a746b12579584f94
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33338 (2012)
In vitro generation of photoreceptors from stem cells is of great interest for the development of regenerative medicine approaches for patients affected by retinal degeneration and for high throughput drug screens for these diseases. In this study, w
Externí odkaz:
https://doaj.org/article/711465ab8fca4aeeb22fc8667d23e0a5
Autor:
Rivka A Rachel, Kunio Nagashima, T Norene O'Sullivan, Laura S Frost, Frank P Stefano, Valeria Marigo, Kathleen Boesze-Battaglia
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e42446 (2012)
Humans with Hermansky-Pudlak Syndrome (HPS) or ocular albinism (OA1) display abnormal aspects of organelle biogenesis. The multigenic disorder HPS displays broad defects in biogenesis of lysosome-related organelles including melanosomes, platelet den
Externí odkaz:
https://doaj.org/article/ffa685268f7a4591aa5e22ac84c26640