Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered...

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Autores principales:	Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, Coen Ottenheijm, Thomas Irving, Henk Granzier
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/fb151f3beab74614afcba240bd5ebe48
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spelling	oai:doaj.org-article:fb151f3beab74614afcba240bd5ebe482021-12-02T15:56:54ZTriggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism10.1038/s41467-020-16526-92041-1723https://doaj.org/article/fb151f3beab74614afcba240bd5ebe482020-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-16526-9https://doaj.org/toc/2041-1723Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered tropomyosin and troponin behaviour.Johan LindqvistWeikang MaFrank LiYaeren HernandezJustin KolbBalazs KissPaola ToninoRobbert van der PijlEsmat KarimiHenry GongJosh StromZaynab HouraniJohn E. SmithCoen OttenheijmThomas IrvingHenk GranzierNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Johan Lindqvist Weikang Ma Frank Li Yaeren Hernandez Justin Kolb Balazs Kiss Paola Tonino Robbert van der Pijl Esmat Karimi Henry Gong Josh Strom Zaynab Hourani John E. Smith Coen Ottenheijm Thomas Irving Henk Granzier Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
description	Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered tropomyosin and troponin behaviour.
format	article
author	Johan Lindqvist Weikang Ma Frank Li Yaeren Hernandez Justin Kolb Balazs Kiss Paola Tonino Robbert van der Pijl Esmat Karimi Henry Gong Josh Strom Zaynab Hourani John E. Smith Coen Ottenheijm Thomas Irving Henk Granzier
author_facet	Johan Lindqvist Weikang Ma Frank Li Yaeren Hernandez Justin Kolb Balazs Kiss Paola Tonino Robbert van der Pijl Esmat Karimi Henry Gong Josh Strom Zaynab Hourani John E. Smith Coen Ottenheijm Thomas Irving Henk Granzier
author_sort	Johan Lindqvist
title	Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
title_short	Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
title_full	Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
title_fullStr	Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
title_full_unstemmed	Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
title_sort	triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/fb151f3beab74614afcba240bd5ebe48
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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

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