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...
21 KB (2,466 words) - 09:28, 3 July 2024
Duchenne muscular dystrophy (redirect from Dystrophin mutation)
mutations and/or deletions in any of the 79 exons encoding the large dystrophin protein, which is essential for maintaining the muscle fiber's cell membrane...
65 KB (6,486 words) - 11:00, 5 August 2024
gene that leads to production of Elevidys micro-dystrophin that contains selected domains of the dystrophin protein present in normal muscle cells. It is...
10 KB (564 words) - 04:19, 25 July 2024
is mutations and deletions in any of the 79 exons encoding the large dystrophin protein, essential for maintaining the muscle fiber's cell membrane integrity...
26 KB (2,536 words) - 04:30, 2 July 2024
The dystrophin-associated protein complex, also known as the dystrophin-associated glycoprotein complex is a multiprotein complex that includes dystrophin...
8 KB (938 words) - 17:30, 6 September 2023
DMD gene changes the DMD mRNA so that it no longer codes for functional dystrophin protein, usually due to a nonsense mutation that introduces a premature...
21 KB (1,457 words) - 01:33, 11 June 2024
muscular filaments within the cell. Dystrophin is an integral part of the muscular structure. An absence of dystrophin can cause impairments: healthy muscle...
30 KB (2,240 words) - 18:04, 8 August 2024
A dystrophin-associated protein is a protein that helps to form the connection between intracellular dystrophin and the extracellular basal lamina. Examples...
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Costamere (redirect from Dystrophin-glycoprotein complex)
development of several distinct myopathies. The dystrophin-associated protein complex, also referred to as the dystrophin-associated glycoprotein complex (DGC or...
10 KB (1,128 words) - 16:22, 23 October 2023
muscular dystrophy (DMD) in people who have a confirmed mutation of the dystrophin gene that is amenable to exon 45 skipping. It is an antisense oligonucleotide...
10 KB (736 words) - 13:18, 16 June 2024
is encoded by the UTRN gene. The name is a short form for ubiquitous dystrophin. The protein encoded by this gene is a component of the cytoskeleton....
10 KB (1,241 words) - 09:44, 3 July 2024
that have received approval from the US FDA for restoring functional dystrophin expression in the most common mutations associated with DMD. His research...
20 KB (1,837 words) - 06:07, 15 April 2024
Duchenne muscular dystrophy, the protein that becomes compromised is dystrophin. The dystrophin protein has two essential functional domains that flank a central...
10 KB (1,190 words) - 17:51, 16 January 2024
SNTB1 (redirect from Dystrophin-associated protein A1)
encoded by the SNTB1 gene. Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne...
8 KB (1,019 words) - 01:26, 9 April 2022
'syntrophin unique' domain. Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne...
11 KB (1,341 words) - 10:54, 4 January 2024
and structurally similar to dystrophin that precedes and is replaced by dystrophin during development. Utrophin and dystrophin are reciprocally expressed...
11 KB (1,046 words) - 17:55, 24 March 2024
spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. The severe end of the spectrum includes Duchenne...
3 KB (169 words) - 12:44, 6 August 2024
Dystrobrevin is a protein that binds to dystrophin in the costamere of skeletal muscle cells. In humans, there are at least two isoforms of dystrobrevin...
21 KB (2,558 words) - 22:41, 3 December 2023
Multiplex-PCR was first described in 1988 as a method to detect deletions in the dystrophin gene. It has also been used with the steroid sulfatase gene. In 2008,...
7 KB (763 words) - 05:22, 9 June 2024
dystrophy, intrinsic laryngeal muscles (ILM) are spared from the lack of dystrophin and may serve as a useful model to study the mechanisms of muscle sparing...
35 KB (4,149 words) - 20:35, 9 August 2024
codon. This causes the muscle cells to produce a small, nonfunctional dystrophin protein. As a result, the mouse has a mild form of DMD where there is...
2 KB (159 words) - 23:44, 5 August 2023
oligonucleotide that alters the splicing of the dystrophin RNA transcript, eliminating exon 51 from the mature dystrophin mRNA. Duchenne muscular dystrophy (DMD)...
8 KB (746 words) - 01:31, 11 June 2024
is caused by mutations in the DMD gene that results in an absence of dystrophin, a protein that helps keep muscle cells intact. The first symptoms are...
11 KB (900 words) - 14:04, 16 June 2024
Distributed garbage collection (in computing) Dystrophin-glycoprotein complex, aka DGC, DAGC, or dystrophin-associated (glyco)protein complex, connects...
1 KB (178 words) - 11:17, 6 April 2022
subfamily and the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several...
9 KB (1,107 words) - 14:51, 7 March 2024
multiple factors including hereditary defects in the cytoskeletal protein dystrophin in Duchenne muscular dystrophy (DMD) patients). A heart that undergoes...
7 KB (791 words) - 22:12, 22 June 2023
muscular dystrophy a patient has. Immunohistochemical dystrophin tests can indicate a decrease in dystrophin detected in sarcoglycanopathies. In terms of sarcoglycan...
35 KB (2,786 words) - 02:50, 22 July 2024
Beta catenin APC Plakoglobin (gamma catenin) Delta catenin GAN Membrane Dystrophin Dystroglycan Utrophin Ankyrin ANK1 ANK2 ANK3 Spectrin SPTA1 SPTAN1 SPTB...
39 KB (3,016 words) - 15:08, 13 July 2024
that in humans is encoded by the DAG1 gene. Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo...
14 KB (1,615 words) - 14:41, 3 December 2023
Duchenne muscular dystrophy, which is associated with mutations in the dystrophin gene. It is characterized by rapid progression of muscle degeneration...
15 KB (1,754 words) - 13:41, 12 August 2024