Dystrophin - Wikipedia
网页Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC).
The Dystrophin Complex: structure, function and implications for ...
网页2015年7月1日 · The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of function mutations in the genes encoding dystrophin, or the associated proteins, triggers instability of the plasma membrane and myofiber loss. Mutations in dystrophin have been extensively cataloged providing remarkable structure-function correlation ...
DMD gene: MedlinePlus Genetics
网页DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain.
Dystrophin - an overview | ScienceDirect Topics
网页Dystrophin is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin–glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extracellular matrix.
The role of the dystrophin glycoprotein complex in muscle cell ...
网页2022年9月27日 · Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix (ECM).
DMD Gene - GeneCards | DMD Protein | DMD Antibody
网页2024年8月5日 · This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix.
Dystrophin - an overview | ScienceDirect Topics
网页Dystrophin is a large protein encoded by a gene on the X chromosome, crucial for linking F-actin to the sarcolemma in muscle cells. Deficiency of dystrophin leads to loss of structural integrity of muscle membranes, resulting in muscle fiber …
The discovery of dystrophin, the protein product of the Duchenne ...
网页2020年7月21日 · This review describes the identification of the cause of the disorder in the late 1980s—dystrophin deficiency—and the emerging therapeutics enabled by increased understanding of dystrophin structure and function.
The importance of dystrophin and the dystrophin associated …
网页2022年11月25日 · In skeletal muscle, dystrophin stabilizes the plasma membrane by transmitting forces generated by sarcomeric contraction to the extracellular matrix (ECM). Dystrophin is a scaffold that binds the dystroglycan complex (DGC) and has many associated proteins (DAPs).
The Dystrophin Complex: Structure, Function, and Implications …
网页2015年6月24日 · The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of function mutations in the genes encoding dystrophin, or the associated proteins, trigger instability of the plasma membrane, and myofiber loss.