Cargando…
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...
Autores principales: | Fujise, Kenshiro, Noguchi, Satoru, Takeda, Tetsuya |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181712/ https://www.ncbi.nlm.nih.gov/pubmed/35682949 http://dx.doi.org/10.3390/ijms23116274 |
Ejemplares similares
-
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
por: Fujise, Kenshiro, et al.
Publicado: (2020) -
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2
por: Hohendahl, Annika, et al.
Publicado: (2016) -
Mutations in BIN1 Associated with Centronuclear Myopathy Disrupt Membrane Remodeling by Affecting Protein Density and Oligomerization
por: Wu, Tingting, et al.
Publicado: (2014) -
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy
por: Giraud, Quentin, et al.
Publicado: (2023) -
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model
por: Fongy, Anaïs, et al.
Publicado: (2019)