دورية أكاديمية
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy
| العنوان: | The Role of Z-disc Proteins in Myopathy and Cardiomyopathy |
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| المؤلفون: | Kirsty Wadmore, Amar J. Azad, Katja Gehmlich |
| المصدر: | International Journal of Molecular Sciences, Vol 22, Iss 6, p 3058 (2021) |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | α-actinin 2, filamin C, myopalladin, myotilin, telethonin, Z-disc alternatively spliced PDZ-motif (ZASP), Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining the architecture of the sarcomere. They also enable it to function as a (bio-mechanical) signalling hub. Numerous proteins interact in the Z-disc to facilitate force transduction and intracellular signalling in both cardiac and skeletal muscle. This review will focus on six key Z-disc proteins: α-actinin 2, filamin C, myopalladin, myotilin, telethonin and Z-disc alternatively spliced PDZ-motif (ZASP), which have all been linked to myopathies and cardiomyopathies. We will summarise pathogenic variants identified in the six genes coding for these proteins and look at their involvement in myopathy and cardiomyopathy. Listing the Minor Allele Frequency (MAF) of these variants in the Genome Aggregation Database (GnomAD) version 3.1 will help to critically re-evaluate pathogenicity based on variant frequency in normal population cohorts. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/22/6/3058; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms22063058 |
| URL الوصول: | https://doaj.org/article/8734da7cc0aa4340b06f9fdfd7c00998 |
| رقم الأكسشن: | edsdoj.8734da7cc0aa4340b06f9fdfd7c00998 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms22063058 |