Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Burcak Ozes"'
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 5, Pp 2204-2215 (2023)
Abstract Background Sarcopenia, an age‐related loss of muscle mass, is a critical factor that affects the health of the older adults. The SOD1KO mouse is deficient of Cu/Zn superoxide dismutase, used as an accelerated aging model. We previously sho
Externí odkaz:
https://doaj.org/article/53647f224bbf4f64a667f27973577f38
Autor:
Zarife Sahenk, Burcak Ozes, Darren Murrey, Morgan Myers, Kyle Moss, Mehmet E. Yalvac, Alicia Ridgley, Lei Chen, Jerry R. Mendell
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 401-414 (2021)
Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity. In this study, AAVrh74.tMCK.CAPN3 was delivered systemically to two different age groups
Externí odkaz:
https://doaj.org/article/dc63800556e54ec48f051843902e5f99
Autor:
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski
Publikováno v:
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular dia
Externí odkaz:
https://doaj.org/article/b23784000fc94e8fa5337756d5dd9e52
Autor:
Lei Chen, Mehmet E. Yalvac, Alicia Ridgley, Darren Murrey, Kyle Moss, Jerry R. Mendell, Morgan Myers, Zarife Sahenk, Burcak Ozes
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss, Pp 401-414 (2021)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity. In this study, AAVrh74.tMCK.CAPN3 was delivered systemically to two different age groups
Autor:
Jerry R. Mendell, Alicia Ridgley, Kyle Moss, Shasha Bai, Lei Chen, Morgan Myers, Mona M. Freidin, Burcak Ozes, Jennifer L. McKinney, Charles K. Abrams, Zarife Sahenk
Publikováno v:
Gene Therapy. 29:127-137
X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the gene encoding Gap Junction Protein Beta-1 (GJB1)/Connexin32 (Cx32) in Schwann cells. Neurotrophin-3 (NT-3) is an important autocrine factor supporting Schwann cell survival
Publikováno v:
Brain Communications. 3
Glycyl–tRNA synthetase mutations are associated to the Charcot–Marie–Tooth disease type-2D. The GarsP278KY/+ model for Charcot–Marie–Tooth disease type-2D is known best for its early onset severe neuropathic phenotype with findings includin
Autor:
Esra Battaloglu, Kuyas Bugra, Ozge Saatci, Neslihan Zohrap, Hasan Murat Atay, Burcak Ozes, Ozgur Sahin, Ipek Coban
Publikováno v:
Oncotarget
Salt Inducible Kinase2 (SIK2) has been shown to contribute to tumorigenesis in multiple tumor types in a dichotomous manner. However, little is known about its contribution to breast malignancies. Here, we report SIK2 as a potential tumor suppressor
Akademický článek
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Autor:
Burcak Ozes, Zarife Sahenk
Publikováno v:
Brain Res
The molecular pathogenesis underlying Charcot-Marie-Tooth (CMT) neuropathy subtypes is becoming increasingly variable and identification of common approaches for treatment, independently of the disease causing gene defect, is therefore much desirable
Autor:
Michael A. Gonzalez, Burcak Ozes, M. Colak, Adriana P. Rebelo, Aysun Soysal, Andrés Ordóñez-Ugalde, Stephan Züchner, Beatriz Quintáns, Esra Battaloglu, Samuel I. Pascual, Florian Harmuth, N. Karagoz, Matthis Synofzik, B. Kara, Rebecca Schüle, Beyza Ciftci-Kavaklioglu, María-Jesús Sobrido
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Clinical genetics 92(5), 534-539 (2017). doi:10.1111/cge.13008
Consejería de Sanidad de la Comunidad de Madrid
Clinical genetics 92(5), 534-539 (2017). doi:10.1111/cge.13008
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c3fa95d9c37b690a3f56ca2f17c67b
https://hdl.handle.net/20.500.12530/32442
https://hdl.handle.net/20.500.12530/32442