Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Steven J. Burden"'
Publikováno v:
Cell Reports, Vol 2, Iss 3, Pp 497-502 (2012)
Amyotrophic lateral sclerosis (ALS) is a devastating disease that progresses from detachment of motor nerve terminals to complete muscle paralysis and lethal respiratory failure within 5 years of diagnosis. Genetic studies have linked mutations in se
Externí odkaz:
https://doaj.org/article/81923896ac2a4232875d805cf0a0ad9e
Publikováno v:
eLife, Vol 7 (2018)
In amyotrophic lateral sclerosis (ALS) and animal models of ALS, including SOD1-G93A mice, disassembly of the neuromuscular synapse precedes motor neuron loss and is sufficient to cause a decline in motor function that culminates in lethal respirator
Externí odkaz:
https://doaj.org/article/d3615645dc99482ea7b9f2d156a2a4c8
Publikováno v:
eLife, Vol 6 (2017)
Muscle fiber length is nearly uniform within a muscle but widely different among different muscles. We show that Abelson tyrosine-protein kinase 2 (Abl2) has a key role in regulating myofiber length, as a loss of Abl2 leads to excessively long myofib
Externí odkaz:
https://doaj.org/article/17bbf52067f84c70ae9f2837120e5102
Autor:
Elise Overgaard, Shiwei Li, Hunter J. Covert, Ken Tawara, Aidan M. Poe, N. Hagan Shults, Aliona A. Chernish, Brandi Sweet, Cara R. Gonzales, Clémentine F.N. Gibard, Steven J. Burden
The SARS-CoV-2 virus has spread globally causing coronavirus disease 2019 (COVID-19). Rapidly and accurately identifying viral infections is an ongoing necessity. We used the systematic evolution of ligands by exponential enrichment (SELEX) technique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cb1ef40876640ddf4674f2d0d5a4125
https://doi.org/10.1101/2022.09.23.22280297
https://doi.org/10.1101/2022.09.23.22280297
Autor:
Alexis D. Corrado, Akiko Koide, Wei Zhang, Nadia Leloup, Gayatri Ketavarapu, Takamitsu Hattori, Julien Oury, Steven J. Burden, Shohei Koide
Publikováno v:
Nature. 595:404-408
Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in DOK7, an adaptor protein that is crucial for forming and maintaining neuromuscular synapses, are a major cause of CM1,2. The most common disease-causing mutation (DOK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6fd3f05509a9a17ae3fdcaa12abcfb
https://doi.org/10.1038/s41586-021-03672-3
https://doi.org/10.1038/s41586-021-03672-3
Autor:
Lomash, Richa Madan, Shchelochkov, Oleg, Chandler, Randy J., Venditti, Charles P., Pariser, Anne R., Ottinger, Elizabeth A., Gilberto V., Averion, Krishna, Balakrishnan, Carsten G., Bönnemann, Philip J., Brooks, Steven J., Burden, Eggerton, Campbell, Catherine, Chen, Eun-Young, Choi, Claire, Driscoll, Oksana, Dukhanina, Susan, Ferry, A. Reghan, Foley, Janelle Geist, Hauserman, Lina, Li
Publikováno v:
Human Gene Therapy; Mar2023, Vol. 34 Issue 5/6, p217-227, 11p
Autor:
Gai Ayalon, Steven J. Burden, Chien-Ping Ko, Elena-Marie Sandino Tenn, Zhihua Feng, Pei-Fen Yen, Sergey Paushkin, Arundhati Sengupta Ghosh, Karen S. Chen, Sarah Cantor, Steven Lam, Wei Zhang
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8015, p 8015 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences
Volume 22
Issue 15
Spinal muscular atrophy (SMA) is a motor neuron disease caused by insufficient levels of the survival motor neuron (SMN) protein. One of the most prominent pathological characteristics of SMA involves defects of the neuromuscular junction (NMJ), such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df83eb3225dda85a672b6f8cfa79d8c3
https://www.mdpi.com/1422-0067/22/15/8015
https://www.mdpi.com/1422-0067/22/15/8015
Publikováno v:
Molecular Biology of the Cell
Key genes, such as Agrin, Lrp4, and MuSK, are required for the initial formation, subsequent maturation, and long-term stabilization of mammalian neuromuscular synapses. Additional molecules are thought to function selectively during the evolution an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0d44a061a909a65f02c5d2cff8649f
https://doi.org/10.1091/mbc.e19-06-0313
https://doi.org/10.1091/mbc.e19-06-0313
Autor:
Steven J. Burden, Yun Liu, Hanns Lochmüller, Esthelle Hoedt, Weichun Lin, S. Todorovic, Thomas A. Neubert, Ana Töpf, Julien Oury, Veeramani Preethish-Kumar
Publikováno v:
The Journal of Cell Biology
Oury et al. show that the scaffolding protein MACF1 links Rapsyn, which binds acetylcholine receptors, to the microtubule- and actin-network at neuromuscular synapses. MACF1 thereby plays a role in synaptic maturation in mice, and mutations of MACF1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd40ce2bcf18d6194f5f2c57d02bf5e
https://doi.org/10.1083/jcb.201810023
https://doi.org/10.1083/jcb.201810023
Publikováno v:
eLife, Vol 3 (2014)
Lrp4, the muscle receptor for neuronal Agrin, is expressed in the hippocampus and areas involved in cognition. The function of Lrp4 in the brain, however, is unknown, as Lrp4−/− mice fail to form neuromuscular synapses and die at birth. Lrp4−/
Externí odkaz:
https://doaj.org/article/f37b3cab3a6f498587022aa200801795