Search Results: Sarcoglycans

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Sarcoglycan
Minggu, 2025-07-13 10:36:27

proteins (alpha-, beta-, gamma-, delta-, epsilon-, and zeta-sarcoglycan). The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane...

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Delta-sarcoglycan
Sabtu, 2025-07-19 12:35:27

filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve. 28 (4): 472–83. doi:10.1002/mus.10465. PMID 14506720...

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Myoclonic dystonia
Jumat, 2026-07-31 10:32:25

other sarcoglycans also result in muscular disorders, further supporting that mutations in the SGCE gene cause myoclonus dystonia. Epsilon sarcoglycan itself...

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SGCG
Rabu, 2025-07-16 05:18:07

Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ...

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Costamere
Senin, 2023-10-23 23:22:11

core proteins of DGC are dystrophin, the sarcoglycans (including alpha, beta, gamma, and lambda sarcoglycan), sarcospan, dystroglycan (alpha and beta)...

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Sarcoglycanopathy
Kamis, 2019-06-27 07:15:39

a collection of diseases resulting from mutations in any of the five sarcoglycan genes: α, β, γ, δ or ε. The five sarcoglycanopathies are: α-sarcoglycanopathy...

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SGCZ
Rabu, 2025-07-16 05:18:09

localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins...

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Filamin-C
Kamis, 2026-07-02 04:00:36

filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle & Nerve. 28 (4): 472–83. doi:10.1002/mus.10465. PMID 14506720...

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Limb–girdle muscular dystrophy
Jumat, 2026-07-31 04:45:57

to mutation of 1) CAPN3 (calpain-3), 2) dysferlin, 3) collagen VI, 4) sarcoglycans, 5) anoctamin 5, and 6) FKRP (fukutin-related protein). In Euroasia CAPN3...

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SGCA
Kamis, 2025-07-17 01:36:20

310200); syntrophins (e.g., MIM 600026); dystroglycans (MIM 128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993)...

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CD20-like family
Selasa, 2025-07-29 23:36:00

glycoprotein. Loss of the sarcoglycan complex and sarcospan alone is sufficient to cause muscular dystrophy. The role of the sarcoglycan complex and sarcospan...

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SGCB
Senin, 2025-08-25 18:59:13

601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM]...

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SGCE
Senin, 2025-12-08 12:25:42

S, Imamura M (2004). "Identification and characterization of epsilon-sarcoglycans in the central nervous system". Brain Res. Mol. Brain Res. 125 (1–2):...

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Dystrophin
Selasa, 2026-08-11 23:00:21

(DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere...

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List of neuromuscular disorders
Senin, 2025-06-02 10:59:07

dysferlin-related LGMD R3 α-sarcoglycan-related LGMD R4 β-sarcoglycan-related LGMD R5 γ-sarcoglycan-related LGMD R6 δ-sarcoglycan-related LGMD R7 telethonin-related...

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List of MeSH codes (D12.776.543)
Jumat, 2025-08-15 03:47:17

The following is a partial list of the "D" codes for Medical Subject Headings (MeSH), as defined by the United States National Library of Medicine (NLM)...

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Michel Fardeau
Minggu, 2026-03-15 00:48:09

autosomal recessive myopathies in children with adhaline deficiency (gamma - sarcoglycan), congenital muscular dystrophies of toddlers with merosin deficiency...

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Dystrophin-associated protein
Sabtu, 2026-05-02 05:19:51

intracellular dystrophin and the extracellular basal lamina. Examples include sarcoglycan and dystroglycan. Dystrophin-associated proteins contribute to mechanical...

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Integrin beta 1
Kamis, 2025-07-17 00:37:48

Bruschetta D, Bramanti P, Pisani A, Favaloro A (Dec 2004). "Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy:...

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FAM241B
Senin, 2026-08-03 00:50:22

receptor 3C, ionotropic LPAR1 Lysophosphatidic acid receptor 1 SGCD Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) ZACN Zinc activated...

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Sarcospan
Jumat, 2026-08-14 23:53:53

to make up for the loss of dystrophin in the neuromuscular junction. Sarcoglycans bind to SSPN and form the SG-SSPN complex, which interacts with dystroglycans...

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Mitochondrial myopathy
Selasa, 2026-08-11 23:54:02

dysferlin-related (LGMD 2B), LGMDR3 α-sarcoglycan-related (LGMD 2D), LGMDR5 γ-sarcoglycan-related (LGMD 2C), and LGMDR6 δ-sarcoglycan-related (LGMD 2F). As well...

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Dystrobrevin alpha
Kamis, 2025-12-18 19:07:37

integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the...

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List of diseases (M)
Kamis, 2026-08-27 08:54:46

limb-girdle type 2B, Myoshi type Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency...

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Dystrobrevin beta
Kamis, 2025-07-17 23:25:17

integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the...

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List of diseases (D)
Selasa, 2026-08-25 16:08:26

"Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy". Brain: A Journal of Neurology. 145 (2): 596–606...

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SGCD
Senin, 2019-12-30 09:27:56

SGCD may refer to: Delta-sarcoglycan, a protein 2-Amino-4-deoxychorismate synthase, an enzyme This disambiguation page lists articles associated with...

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Dystrobrevin
Rabu, 2025-10-01 09:51:52

α-dystrobrevin associated with dystrophin at its coil-coil region and with a sarcoglycan-protein complex at the amino-terminal. It has been proposed to function...

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List of MeSH codes (D12.776)
Rabu, 2026-07-01 03:49:22

MeSH D12.776.210.500.410.500 – dystroglycans MeSH D12.776.210.500.410.750 – sarcoglycans MeSH D12.776.210.500.570.590 – myod protein MeSH D12.776.210.500.570...

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Chris Ponting
Rabu, 2026-06-10 02:35:52

Ponting, C. P. (2002). "Cadherin-like domains in α-dystroglycan, α/ε-sarcoglycan and yeast and bacterial proteins". Current Biology. 12 (6): R197–R199...

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Mesoangioblast
Selasa, 2026-07-21 19:49:27

(DMD) and limb-girdle muscular dystrophy (LGMD). Experiments in alpha-sarcoglycan (α-SG) deficient dystrophic mice have shown that mesoangioblast transplantation...

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Dystrophin-associated protein complex
Selasa, 2026-08-18 21:10:26

contains dystrophin-associated proteins. This includes a four subunit sarcoglycan complex, which is fixed to dystrophin in muscle cells. In the epithelia...

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Kifunensine
Rabu, 2025-02-26 03:02:50

have been identified, which result from defects in the γ-, α-, β- and δ-sarcoglycan genes. There are fewer than 1,500 patients with sarcoglycanopathy in...

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Laboratory Syrian hamster
Selasa, 2025-05-27 06:35:33

studied inbred hamster strain, BIO14.6, has been identified as being delta-sarcoglycan. Pet hamsters are also potentially prone to cardiomyopathy, which is...

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Integrin alpha 7
Minggu, 2026-06-14 13:50:05

integrin and gamma-sarcoglycan have overlapping functions in skeletal muscle. In support of this, a double knockout of gamma-sarcoglycan and alpha-7 integrin...

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