Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various endocytic...
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| Format: | Article |
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MDPI AG
2022-06-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/11/6274 |
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| author | Kenshiro Fujise Satoru Noguchi Tetsuya Takeda |
| author_facet | Kenshiro Fujise Satoru Noguchi Tetsuya Takeda |
| author_sort | Kenshiro Fujise |
| collection | DOAJ |
| description | Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various endocytic proteins are involved in T-tubule biogenesis and their dysfunction is tightly associated with CNM pathogenesis. <i>DNM2</i> and <i>BIN1</i> are two causative genes for CNM that encode essential membrane remodelling proteins in endocytosis, dynamin 2 and BIN1, respectively. In this review, we overview the functions of dynamin 2 and BIN1 in T-tubule biogenesis and discuss how their dysfunction in membrane remodelling leads to CNM pathogenesis. |
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| format | Article |
| id | doaj.art-74a3d4ca99334ff8ba59e44b8207fdf1 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T01:14:12Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-74a3d4ca99334ff8ba59e44b8207fdf12023-11-23T14:12:38ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-06-012311627410.3390/ijms23116274Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 VariantsKenshiro Fujise0Satoru Noguchi1Tetsuya Takeda2Departments of Neuroscience and Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06520-8001, USANational Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo 187-8502, JapanDepartment of Biochemistry, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Shikata-cho 2-5-1, Kita-ku, Okayama 700-8558, JapanCentronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various endocytic proteins are involved in T-tubule biogenesis and their dysfunction is tightly associated with CNM pathogenesis. <i>DNM2</i> and <i>BIN1</i> are two causative genes for CNM that encode essential membrane remodelling proteins in endocytosis, dynamin 2 and BIN1, respectively. In this review, we overview the functions of dynamin 2 and BIN1 in T-tubule biogenesis and discuss how their dysfunction in membrane remodelling leads to CNM pathogenesis.https://www.mdpi.com/1422-0067/23/11/6274centronuclear myopathyT-tubulesdynaminBIN1membrane remodelling |
| spellingShingle | Kenshiro Fujise Satoru Noguchi Tetsuya Takeda Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants International Journal of Molecular Sciences centronuclear myopathy T-tubules dynamin BIN1 membrane remodelling |
| title | Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants |
| title_full | Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants |
| title_fullStr | Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants |
| title_full_unstemmed | Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants |
| title_short | Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants |
| title_sort | centronuclear myopathy caused by defective membrane remodelling of dynamin 2 and bin1 variants |
| topic | centronuclear myopathy T-tubules dynamin BIN1 membrane remodelling |
| url | https://www.mdpi.com/1422-0067/23/11/6274 |
| work_keys_str_mv | AT kenshirofujise centronuclearmyopathycausedbydefectivemembraneremodellingofdynamin2andbin1variants AT satorunoguchi centronuclearmyopathycausedbydefectivemembraneremodellingofdynamin2andbin1variants AT tetsuyatakeda centronuclearmyopathycausedbydefectivemembraneremodellingofdynamin2andbin1variants |