Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy-Reference-Cited by-同舟云学术

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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Published:2018-05-30 Issue:1 Volume:6 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Sztal Tamar E.,McKaige Emily A.,Williams Caitlin,Oorschot Viola,Ramm Georg,Bryson-Richardson Robert J.

Funder

Muscular Dystrophy Association

Association Française contre les Myopathies

National Health and Medical Research Council

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-018-0546-9.pdf

Reference45 articles.

1. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari V-L, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH (2006) Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80:162–167. https://doi.org/10.1086/510402

2. Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH (2004) Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations. Ann Neurol 56:86–96. doi: https://doi.org/10.1002/ana.20157

3. Bang M-L, Li X, Littlefield R, Bremner S, Thor A, Knowlton KU, Lieber RL, Chen J (2006) Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Muscle Res Cell Motil 173:905–916. https://doi.org/10.1083/jcb.200603119

4. Berger J, Hall TE, Currie PD (2015) Novel transgenic lines to label sarcolemma and myofibrils of the musculature. Zebrafish 12:124–125. https://doi.org/10.1089/zeb.2014.1065

5. Daubner SC, Le T, Wang S (2011) Tyrosine hydroxylase and regulation of dopamine synthesis. Arch Biochem Biophys 508:1–12. https://doi.org/10.1016/j.abb.2010.12.017

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2. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;Acta Neuropathologica;2024-04-18

3. Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy;Human Molecular Genetics;2024-03-17

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