Nebulin: Size matters for optimal muscle function
Author:
Affiliation:
1. Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland
Abstract
Publisher
Rockefeller University Press
Subject
Physiology
Link
http://rupress.org/jgp/article-pdf/doi/10.1085/jgp.202012848/1409277/jgp_202012848.pdf
Reference12 articles.
1. Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts;Donner;Eur. J. Hum. Genet.,2004
2. The number of Z-repeats and super-repeats in nebulin greatly varies across vertebrates and scales with animal size;Gohlke;J. Gen. Physiol.,2021
3. A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array;Kiiski;Eur. J. Hum. Genet.,2016
4. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene;Kiiski;Neuromuscul. Disord.,2019
5. Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle;Kiss;Proc. Natl. Acad. Sci. USA.,2018
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force;International Journal of Molecular Sciences;2023-10-12
2. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy;Neurology Genetics;2023-02
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