Zobrazeno 1 - 10
of 311
pro vyhledávání: '"Dynamin 2"'
Akademický článek
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Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations
Autor:
Swati Dudhal, Lylia Mekzine, Bernard Prudhon, Karishma Soocheta, Bruno Cadot, Kamel Mamchaoui, Delphine Trochet, Marc Bitoun
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 733-748 (2022)
Dominant centronuclear myopathy (CNM) is a rare form of congenital myopathy associated with a wide clinical spectrum, from severe neonatal to milder adult forms. There is no available treatment for this disease due to heterozygous mutations in the DN
Externí odkaz:
https://doaj.org/article/8e9a6b63ea2842319af2c41521d31680
Autor:
Delphine Trochet, Marc Bitoun
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 40, Iss 1, Pp 1-12 (2021)
Abstract Dynamin 2 (DNM2) is an ubiquitously expressed large GTPase well known for its role in vesicle formation in endocytosis and intracellular membrane trafficking also acting as a regulator of cytoskeletons. During the last two decades, DNM2 invo
Externí odkaz:
https://doaj.org/article/6427e30b03844bbab4627347f90b3188
Autor:
Buono, Suzie, Ross, Jacob A., Tasfaout, Hichem, Levy, Yotam, Kretz, Christine, Tayefeh, Leighla, Matson, John, Guo, Shuling, Kessler, Pascal, Monia, Brett P., Bitoun, Marc, Ochala, Julien, Laporte, Jocelyn, Cowling, Belinda S.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2018 Oct . 115(43), 11066-11071.
Externí odkaz:
https://www.jstor.org/stable/26532367
Publikováno v:
Marshall Journal of Medicine, Vol 4, Iss 4, Pp 1-15 (2018)
Dynamin 2 (DMN2) mutations cause centronuclear myopathy (CNM) and Charcot Marie Tooth (CMT). Herein we discuss the details of a patient's case of adult onset CNM. We also highlight the unique features of this case with regards to the importance of el
Externí odkaz:
https://doaj.org/article/a7b1cefc1a8f41ed9a51f93139e802fc
Autor:
Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 2, Pp 239-253 (2017)
Abstract Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. We used this strategy for autosomal‐dominant centronuclear myopathy (CNM),
Externí odkaz:
https://doaj.org/article/a4426586b535417d812fa75336f2413c
Publikováno v:
Biology Open, Vol 5, Iss 11, Pp 1691-1696 (2016)
Autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by centrally located nuclei in muscle fibers. CNM results from mutations in the gene encoding dynamin 2 (DNM2), a large GTPase involved in endocytosis, intrac
Externí odkaz:
https://doaj.org/article/ccf7485bfd9141aca317ab720a8e4720
Targeting Dynamin 2 as a Novel Pathway to Inhibit Cardiomyocyte Apoptosis Following Oxidative Stress
Publikováno v:
Cellular Physiology and Biochemistry, Vol 39, Iss 6, Pp 2121-2134 (2016)
Background/Aims: Inhibition of Drp-1-mediated mitochondrial fission limits reactive oxygen species (ROS) production and apoptosis in cardiomyocytes subjected to ischemia/reperfusion injury. It remains unknown if Dynamin 2 inhibition results in simila
Externí odkaz:
https://doaj.org/article/6025739a61fb41ae8d527c499e57c266
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Val A. Fajardo, Eric Bombardier, Elliott McMillan, Khanh Tran, Brennan J. Wadsworth, Daniel Gamu, Andrew Hopf, Chris Vigna, Ian C. Smith, Catherine Bellissimo, Robin N. Michel, Mark A. Tarnopolsky, Joe Quadrilatero, A. Russell Tupling
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 8, Pp 999-1009 (2015)
Centronuclear myopathy (CNM) is a congenital myopathy that is histopathologically characterized by centrally located nuclei, central aggregation of oxidative activity, and type I fiber predominance and hypotrophy. Here, we obtained commercially avail
Externí odkaz:
https://doaj.org/article/5c1b60ecd4ac4318a37bb7998cf58ece