N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

Detalhes bibliográficos
Autor(a) principal: Falcone, Sestina
Data de Publicação: 2014
Outros Autores: Roman, William, Hnia, Karim, Gache, Vincent, Didier, Nathalie, Lainé, Jeanne, Auradé, Frederic, Marty, Isabelle, Nishino, Ichizo, Charlet‐Berguerand, Nicolas, Romero, Norma Beatriz, Marazzi, Giovanna, Sassoon, David, Laporte, Jocelyn, Gomes, Edgar
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/51321
Resumo: © 2014 The Authors. Published under the terms of the CC BY 4.0 license. This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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spelling N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathyCentronuclear myopathyCytoskeletonNuclear movementTriad formation© 2014 The Authors. Published under the terms of the CC BY 4.0 license. This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.Mutations in amphiphysin-2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads. Mis-splicing of amphiphysin-2/BIN1 is also associated with myotonic dystrophy that shares histopathological hallmarks with CNM. How amphiphysin-2 orchestrates nuclear positioning and triad organization and how CNM-associated mutations lead to muscle dysfunction remains elusive. We find that N-WASP interacts with amphiphysin-2 in myofibers and that this interaction and N-WASP distribution are disrupted by amphiphysin-2 CNM mutations. We establish that N-WASP functions downstream of amphiphysin-2 to drive peripheral nuclear positioning and triad organization during myofiber formation. Peripheral nuclear positioning requires microtubule/Map7/Kif5b-dependent distribution of nuclei along the myofiber and is driven by actin and nesprins. In adult myofibers, N-WASP and amphiphysin-2 are only involved in the maintenance of triad organization but not in the maintenance of peripheral nuclear positioning. Importantly, we confirmed that N-WASP distribution is disrupted in CNM and myotonic dystrophy patients. Our results support a role for N-WASP in amphiphysin-2-dependent nuclear positioning and triad organization and in CNM and myotonic dystrophy pathophysiology.EMBO PressRepositório da Universidade de LisboaFalcone, SestinaRoman, WilliamHnia, KarimGache, VincentDidier, NathalieLainé, JeanneAuradé, FredericMarty, IsabelleNishino, IchizoCharlet‐Berguerand, NicolasRomero, Norma BeatrizMarazzi, GiovannaSassoon, DavidLaporte, JocelynGomes, Edgar2022-02-15T15:14:40Z20142014-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/51321engEMBO Mol Med (2014)6:1455–14751757-467610.15252/emmm.2014044361757-4684info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T16:55:56Zoai:repositorio.ul.pt:10451/51321Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:02:37.299308Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
title N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
spellingShingle N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
Falcone, Sestina
Centronuclear myopathy
Cytoskeleton
Nuclear movement
Triad formation
title_short N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
title_full N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
title_fullStr N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
title_full_unstemmed N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
title_sort N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
author Falcone, Sestina
author_facet Falcone, Sestina
Roman, William
Hnia, Karim
Gache, Vincent
Didier, Nathalie
Lainé, Jeanne
Auradé, Frederic
Marty, Isabelle
Nishino, Ichizo
Charlet‐Berguerand, Nicolas
Romero, Norma Beatriz
Marazzi, Giovanna
Sassoon, David
Laporte, Jocelyn
Gomes, Edgar
author_role author
author2 Roman, William
Hnia, Karim
Gache, Vincent
Didier, Nathalie
Lainé, Jeanne
Auradé, Frederic
Marty, Isabelle
Nishino, Ichizo
Charlet‐Berguerand, Nicolas
Romero, Norma Beatriz
Marazzi, Giovanna
Sassoon, David
Laporte, Jocelyn
Gomes, Edgar
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Falcone, Sestina
Roman, William
Hnia, Karim
Gache, Vincent
Didier, Nathalie
Lainé, Jeanne
Auradé, Frederic
Marty, Isabelle
Nishino, Ichizo
Charlet‐Berguerand, Nicolas
Romero, Norma Beatriz
Marazzi, Giovanna
Sassoon, David
Laporte, Jocelyn
Gomes, Edgar
dc.subject.por.fl_str_mv Centronuclear myopathy
Cytoskeleton
Nuclear movement
Triad formation
topic Centronuclear myopathy
Cytoskeleton
Nuclear movement
Triad formation
description © 2014 The Authors. Published under the terms of the CC BY 4.0 license. This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
publishDate 2014
dc.date.none.fl_str_mv 2014
2014-01-01T00:00:00Z
2022-02-15T15:14:40Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/51321
url http://hdl.handle.net/10451/51321
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv EMBO Mol Med (2014)6:1455–1475
1757-4676
10.15252/emmm.201404436
1757-4684
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv EMBO Press
publisher.none.fl_str_mv EMBO Press
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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