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MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

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dc.contributor.author Oury, Julien
dc.contributor.author Liu, Yun
dc.contributor.author Töpf, Ana
dc.contributor.author Todorovic, Slobodanka
dc.contributor.author Hoedt, Esthelle
dc.contributor.author Preethish-Kumar, Veeramani
dc.contributor.author Neubert, Thomas A.
dc.contributor.author Lin, Weichun
dc.contributor.author Lochmüller, Hanns
dc.contributor.author Burden, Steven J.
dc.date.accessioned 2020-03-27T07:24:09Z
dc.date.available 2020-03-27T07:24:09Z
dc.date.issued 2019
dc.identifier.citation Oury J, Liu Y, Töpf A, Todorovic S, Hoedt E, Preethish-Kumar V, Neubert TA, Lin W, Lochmüller H, Burden SJ. MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. J Cell Biol. 2019; 218(5):1686-705. DOI: 10.1083/jcb.201810023
dc.identifier.issn 0021-9525
dc.identifier.uri http://hdl.handle.net/10230/44062
dc.description.abstract Complex mechanisms are required to form neuromuscular synapses, direct their subsequent maturation, and maintain the synapse throughout life. Transcriptional and post-translational pathways play important roles in synaptic differentiation and direct the accumulation of the neurotransmitter receptors, acetylcholine receptors (AChRs), to the postsynaptic membrane, ensuring for reliable synaptic transmission. Rapsyn, an intracellular peripheral membrane protein that binds AChRs, is essential for synaptic differentiation, but how Rapsyn acts is poorly understood. We screened for proteins that coisolate with AChRs in a Rapsyn-dependent manner and show that microtubule actin cross linking factor 1 (MACF1), a scaffolding protein with binding sites for microtubules (MT) and actin, is concentrated at neuromuscular synapses, where it binds Rapsyn and serves as a synaptic organizer for MT-associated proteins, EB1 and MAP1b, and the actin-associated protein, Vinculin. MACF1 plays an important role in maintaining synaptic differentiation and efficient synaptic transmission in mice, and variants in MACF1 are associated with congenital myasthenia in humans.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Rockefeller University Press
dc.relation.ispartof J Cell Biol. 2019; 218(5):1686-705
dc.rights © 2019 Oury et al. This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).
dc.rights.uri https://creativecommons.org/licenses/by-nc-sa/4.0/
dc.title MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1083/jcb.201810023
dc.subject.keyword Cytoskeleton
dc.subject.keyword Disease
dc.subject.keyword Neuroscience
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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