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Special Issue "Sarcomeric Proteins in Health and Disease"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biophysics".

Deadline for manuscript submissions: 31 March 2020.

Special Issue Editor

Prof. Dr. Thomas C. Irving
E-Mail Website
Guest Editor
Department of Biological Sciences, Illinois Institute of Technology, Chicago, IL, USA
Interests: biophysics of muscle contraction; non-crystalline x-ray diffraction; synchrotron radiation instrumentation

Special Issue Information

Dear colleagues,

Many inherited diseases in skeletal and cardiac muscle have their origin in mutations in sarcomeric proteins. Developing rationale therapeutic strategies will require a detailed understanding of the normal structure and function of the proteins that comprise the sarcomere, as well as how these structures and functions are altered in disease.

The aim of the present Special Issue is to bring together reviews and original papers on the structure and function of specific components of the sarcomere as they relate to overall contractile function and its regulation in normal and diseased muscle tissue. Historically, the focus in molecular biophysical studies of muscle contraction has been on actin–myosin interaction.

This issue is intended to be an opportunity to explore other aspects of sarcomere structure and function. These could include topics such as:(1) the elastic properties of sarcomeric proteins and their role in regulation, (2) structural dynamics of the Z-lines and M-lines, (3) sarcomeric structural proteins and cell signaling pathways, and (4) regulation of turnover of sarcomeric proteins. This list is not intended to be exclusive. Any of these topics could include investigation and discussion of mutations and post-translational modification alter protein structure and either normal or pathological function.

Prof. Dr. Thomas C. Irving
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (1 paper)

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Open AccessArticle
Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv
Int. J. Mol. Sci. 2019, 20(20), 5008; https://doi.org/10.3390/ijms20205008 - 10 Oct 2019
Respiratory failure due to diaphragm dysfunction is considered a main cause of death in nemaline myopathy (NM) and we studied both isometric force and isotonic shortening of diaphragm muscle in a mouse model of nebulin-based NM (Neb cKO). A large contractile deficit was [...] Read more.
Respiratory failure due to diaphragm dysfunction is considered a main cause of death in nemaline myopathy (NM) and we studied both isometric force and isotonic shortening of diaphragm muscle in a mouse model of nebulin-based NM (Neb cKO). A large contractile deficit was found in nebulin-deficient intact muscle that is frequency dependent, with the largest deficits at low–intermediate stimulation frequencies (e.g., a deficit of 72% at a stimulation frequency of 20 Hz). The effect of the fast skeletal muscle troponin activator (FSTA) tirasemtiv on force was examined. Tirasemtiv had a negligible effect at maximal stimulation frequencies, but greatly reduced the force deficit of the diaphragm at sub-maximal stimulation levels with an effect that was largest in Neb cKO diaphragm. As a result, the force deficit of Neb cKO diaphragm fell (from 72% to 29% at 20 Hz). Similar effects were found in in vivo experiments on the nerve-stimulated gastrocnemius muscle complex. Load-clamp experiments on diaphragm muscle showed that tirasemtiv increased the shortening velocity, and reduced the deficit in mechanical power by 33%. Thus, tirasemtiv significantly improves muscle function in a mouse model of nebulin-based nemaline myopathy. Full article
(This article belongs to the Special Issue Sarcomeric Proteins in Health and Disease)
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