Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Bence György"'
Autor:
Bence György Gombás, Zoltán Villányi
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1611 (2024)
We recently demonstrated that 1,6-hexanediol inhibits the formation of assemblysomes. These membraneless cell organelles have important roles in co-translational protein complex assembly and also store halfway translated DNA damage response proteins
Externí odkaz:
https://doaj.org/article/5d80cdaa40324854aad7e1275f08a027
Autor:
Evangelos Konstantinidis, Agnieszka Molisak, Florian Perrin, Linn Streubel-Gallasch, Sarah Fayad, Daniel Y. Kim, Karl Petri, Martin J. Aryee, Ximena Aguilar, Bence György, Vilmantas Giedraitis, J. Keith Joung, Vikram Pattanayak, Magnus Essand, Anna Erlandsson, Oksana Berezovska, Martin Ingelsson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 450-461 (2022)
Presenilin 1 (PS1) is a central component of γ-secretase, an enzymatic complex involved in the generation of the amyloid-β (Aβ) peptide that deposits as plaques in the Alzheimer’s disease (AD) brain. The M146L mutation in the PS1 gene (PSEN1) le
Externí odkaz:
https://doaj.org/article/503c1c5367834e719f03a069aa99c40b
Autor:
Olga Zabek, Ioannis Lamprakis, Annekatrin Rickmann, Giacomo Calzetti, Bence György, Hendrik P.N. Scholl, Maria della Volpe Waizel
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101527- (2022)
Purpose: We report a first case of bilateral occult macular dystrophy (OMD) with a c.133C>T (p.Arg45Trp) pathogenic variant in the retinitis pigmentosa 1-like 1 (RP1L1) gene in a patient of Caucasian Swiss decent. Observations: A 34-year-old man pres
Externí odkaz:
https://doaj.org/article/0cf16a9e1eb043918d2e446902000c23
Autor:
Lilian Cruz, Bence György, Pike See Cheah, Benjamin P. Kleinstiver, William A. Eimer, Sara P. Garcia, Nutan Sharma, Laurie J. Ozelius, D. Cristopher Bragg, J. Keith Joung, Osmar Norberto de Souza, Luis Fernando Saraiva Macedo Timmers, Xandra O. Breakefield
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 1-12 (2020)
Most individuals affected with DYT1 dystonia have a heterozygous 3-bp deletion in the TOR1A gene (c.907_909delGAG). The mutation appears to act through a dominant-negative mechanism compromising normal torsinA function, and it is proposed that reduci
Externí odkaz:
https://doaj.org/article/7258ef6927e544c29b5663dbd5f40e37
Autor:
Killian S. Hanlon, Benjamin P. Kleinstiver, Sara P. Garcia, Mikołaj P. Zaborowski, Adrienn Volak, Stefan E. Spirig, Alissa Muller, Alexander A. Sousa, Shengdar Q. Tsai, Niclas E. Bengtsson, Camilla Lööv, Martin Ingelsson, Jeffrey S. Chamberlain, David P. Corey, Martin J. Aryee, J. Keith Joung, Xandra O. Breakefield, Casey A. Maguire, Bence György
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
In-depth characterization of adeno-associated virus (AAV)-mediated CRISPR delivery is still lacking. Here, the authors show high levels of integration into Cas9-induced double-strand breaks (DSBs) in therapeutically relevant genes in vivo.
Externí odkaz:
https://doaj.org/article/d463e02a3bdc40c4aca343f4b409877a
Autor:
Bence György, Elise J. Meijer, Maryna V. Ivanchenko, Kelly Tenneson, Frederick Emond, Killian S. Hanlon, Artur A. Indzhykulian, Adrienn Volak, K. Domenica Karavitaki, Panos I. Tamvakologos, Mark Vezina, Vladimir K. Berezovskii, Richard T. Born, Maureen O’Brien, Jean-François Lafond, Yvan Arsenijevic, Margaret A. Kenna, Casey A. Maguire, David P. Corey
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 1-13 (2019)
Hereditary hearing loss often results from mutation of genes expressed by cochlear hair cells. Gene addition using AAV vectors has shown some efficacy in mouse models, but clinical application requires two additional advances. First, new AAV capsids
Externí odkaz:
https://doaj.org/article/6758ea888ad8422f9ec07444e4da3682
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249344 (2021)
PurposeTo examine the effect of prolactin (PRL) on human corneal stromal fibroblasts (CSFs), derived from healthy individuals and from keratoconus (KC) patients, in vitro, specifically assessing physiological and elevated PRL concentrations as appare
Externí odkaz:
https://doaj.org/article/f7c65117e05648eab7248adb3dccbc7a
Autor:
Bence György, Camilla Lööv, Mikołaj P. Zaborowski, Shuko Takeda, Benjamin P. Kleinstiver, Caitlin Commins, Ksenia Kastanenka, Dakai Mu, Adrienn Volak, Vilmantas Giedraitis, Lars Lannfelt, Casey A. Maguire, J. Keith Joung, Bradley T. Hyman, Xandra O. Breakefield, Martin Ingelsson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 429-440 (2018)
The APPswe (Swedish) mutation in the amyloid precursor protein (APP) gene causes dominantly inherited Alzheimer’s disease (AD) as a result of increased β-secretase cleavage of the amyloid-β (Aβ) precursor protein. This leads to abnormally high A
Externí odkaz:
https://doaj.org/article/02b58cb34d3c4ec3bd5ead3c96a5fabe
Autor:
Bence György, Lilian Cruz, David Yellen, Massimo Aufiero, Isabel Alland, Xuan Zhang, Maria Ericsson, Cornel Fraefel, Yu-Ching Li, Shuko Takeda, Bradley T. Hyman, Xandra O. Breakefield
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Most cases of early onset torsion dystonia (DYT1) are caused by a 3-base pair deletion in one allele of the TOR1A gene causing loss of a glutamate in torsinA, a luminal protein in the nuclear envelope. This dominantly inherited neurologic di
Externí odkaz:
https://doaj.org/article/4131676be5884f5cbf65ea417d647cbb
Autor:
Xabier Osteikoetxea, Andrea Balogh, Katalin Szabó-Taylor, Andrea Németh, Tamás Géza Szabó, Krisztina Pálóczi, Barbara Sódar, Ágnes Kittel, Bence György, Éva Pállinger, János Matkó, Edit Irén Buzás
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0121184 (2015)
In recent years the study of extracellular vesicles has gathered much scientific and clinical interest. As the field is expanding, it is becoming clear that better methods for characterization and quantification of extracellular vesicles as well as b
Externí odkaz:
https://doaj.org/article/115339f5d66446438f8c40211a3a0979