Zobrazeno 1 - 10
of 84
pro vyhledávání: '"GOSR2"'
Akademický článek
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Autor:
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-17 (2021)
Abstract BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin‐5 for fusion of endoplasmic reticulum‐derived vesicles with the ER‐Golgi intermediate compartment (ERGIC) and the cis‐Golgi. Here, we report three
Externí odkaz:
https://doaj.org/article/36e02f0c64b8417881fabf19320857cf
Akademický článek
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Autor:
Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract Background Transport protein particle (TRAPP) is a supramolecular protein complex that functions in localizing proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in muscle disease by virtue of homozygous and compound
Externí odkaz:
https://doaj.org/article/34eec2f6491f4e40885be0912b53e061
Autor:
Jörn M. Völker, Mykola Dergai, Luciano A. Abriata, Yves Mingard, Daniel Ysselstein, Dimitri Krainc, Matteo Dal Peraro, Gabriele Fischer von Mollard, Dirk Fasshauer, Judith Koliwer, Michael Schwake
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 12, Pp 1391-1398 (2017)
Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Qb-SNARE GOSR2, which forms a SNARE complex wit
Externí odkaz:
https://doaj.org/article/7144d805276745b29e2b76a780c76495
Autor:
Roman Praschberger, Simon A. Lowe, Nancy T. Malintan, Carlo N.G. Giachello, Nian Patel, Henry Houlden, Dimitri M. Kullmann, Richard A. Baines, Maria M. Usowicz, Shyam S. Krishnakumar, James J.L. Hodge, James E. Rothman, James E.C. Jepson
Publikováno v:
Cell Reports, Vol 21, Iss 1, Pp 97-109 (2017)
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion.
Externí odkaz:
https://doaj.org/article/8d9b11dd09d141658c999a9be32e95ef
Akademický článek
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Autor:
Sjoukje S Polet, Tom J. de Koning, Jenke A Gorter, Roald A. Lambrechts, Marina. A. J. de Koning-Tijssen, Ody C. M. Sibon, Lisa van Ninhuys, Nicola A. Grzeschik, Alejandra Hernandez-Pichardo
Publikováno v:
Neuroscience, 423, 1-11. PERGAMON-ELSEVIER SCIENCE LTD
Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6105659111e9609c65789a097f9a525
https://hdl.handle.net/11370/9ead118c-2c01-40a7-bdc2-0958c6ea2fce
https://hdl.handle.net/11370/9ead118c-2c01-40a7-bdc2-0958c6ea2fce
Autor:
Marina A. J. Tijssen, Amerins Weijenberg, Martje E. van Egmond, Oebele F. Brouwer, Roald A. Lambrechts, Jan Willem J. Elting, Rodi Zutt, Deborah A Sival, Margreet van Rijn, Tom J. de Koning, Jeannette M. Gelauff
Publikováno v:
Orphanet journal of rare diseases, 12(45), 1-6. BMC
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1719dbd802f647f0a6c272d244bfb0b7
https://research.rug.nl/en/publications/d3099c35-6dcc-4d23-9bbd-72c7550d1d56
https://research.rug.nl/en/publications/d3099c35-6dcc-4d23-9bbd-72c7550d1d56
Autor:
Shuang Shi, Zhongwei Liu, Ying Lv, Ronghuai Zhang, Tomohiro Nakayama, Yong Zhang, Na Zhao, Junkui Wang, Fuqiang Liu, Gongchang Guan, Shuo Pan, Shun-Ming Zhu
Publikováno v:
Oncotarget. 8:82165-82173
// Shuo Pan 1, * , Gong-Chang Guan 1, * , Ying Lv 1, * , Zhong-Wei Liu 1 , Fu-Qiang Liu 1 , Yong Zhang 1 , Shun-Ming Zhu 1 , Rong-Huai Zhang 1 , Na Zhao 1 , Shuang Shi 1 , Tomohiro Nakayama 2 and Jun-Kui Wang 1 1 First Department of Cardiology, Peopl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cdb3480aa4a50cf08dbb380af9e3f5d
https://doi.org/10.18632/oncotarget.19280
https://doi.org/10.18632/oncotarget.19280