Zobrazeno 1 - 10
of 277
pro vyhledávání: '"DNM2"'
Autor:
Yan Hu, Fulvio Reggiori
Publikováno v:
Autophagy Reports, Vol 2, Iss 1 (2023)
Macroautophagy/autophagy is a degradative pathway that plays an important role in maintaining cellular homeostasis in eukaryotes. During autophagy, cisternal compartments called phagophores are generated to sequester intracellular components; these s
Externí odkaz:
https://doaj.org/article/4f735bc3a54342e2babc3b9c8661d6a7
Autor:
Nathan Eaton, Emily K. Boyd, Ratnashree Biswas, Melissa M. Lee-Sundlov, Theresa A. Dlugi, Haley E. Ramsey, Shikan Zheng, Robert T. Burns, Martha C. Sola-Visner, Karin M. Hoffmeister, Hervé Falet
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Dnm2fl/fl Pf4-Cre (Dnm2Plt–/–) mice lacking the endocytic GTPase dynamin 2 (DNM2) in platelets and megakaryocytes (MKs) develop hallmarks of myelofibrosis. At the cellular level, the tyrosine kinase JAK2 is constitutively active but decreased in
Externí odkaz:
https://doaj.org/article/73151d5c2e1546588b6efb532643c4f0
Akademický článek
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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:
Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-3 (2018)
Externí odkaz:
https://doaj.org/article/4fb80b1c3c264e16863f8ee3b4ad28e5
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies
Externí odkaz:
https://doaj.org/article/efdc7bba27ae465b871410d88af13b5f
Autor:
Osorio Abath Neto, Cristiane de Araújo Martins, Mary Carvalho, Gerson Chadi, Katia Werneck Seitz, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Jocelyn Laporte, Edmar Zanoteli
Publikováno v:
Genetics and Molecular Biology, Vol 38, Iss 2, Pp 147-151 (2015)
Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset m
Externí odkaz:
https://doaj.org/article/ed0a4e569c744b16a09fc5f73ad9054d
Publikováno v:
Journal of Neuromuscular Diseases. 8:647-655
Background: Clinical characteristics of patients with congenital myopathies (CM) are well known but there is a lack of knowledge about the natural history and course of disease of the different genetic subtypes. In 2010 we assessed the national cohor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072933db9560b930d7fab5c00bd95a10
https://doi.org/10.3233/jnd-200574
https://doi.org/10.3233/jnd-200574
Autor:
E. I. Semenova, M.M. Rudenok, P. A. Slominsky, Sergei N. Illarioshkin, A. Kh. Alieva, M. I. Shadrina, A. V. Karabanov
Publikováno v:
Molecular Genetics, Microbiology and Virology. 36:139-143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc7607d33a60fc1e0ae7bd9cfee47eca
https://doi.org/10.3103/s0891416821030071
https://doi.org/10.3103/s0891416821030071