-
proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-
sarcoglycan). The
sarcoglycans are asparagine-linked
glycosylated proteins with
single transmembrane...
-
other sarcoglycans also
result in
muscular disorders,
further supporting that
mutations in the SGCE gene
cause myoclonus dystonia.
Epsilon sarcoglycan itself...
- 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...
- core
proteins of DGC are dystrophin, the
sarcoglycans (including alpha, beta, gamma, and
lambda sarcoglycan), sarcospan,
dystroglycan (alpha and beta)...
- 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...
-
those due to
mutation of 1) calpain, 2) dysferlin, 3)
collagen VI, 4)
sarcoglycans, 5)
anoctamin 5, and 6) ****utin-related protein. In
Euroasia CAPN3 mutations...
-
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...
- 310200);
syntrophins (e.g., MIM 600026);
dystroglycans (MIM 128239); and
sarcoglycans, such as adhalin, a 50-kD
transmembrane protein (Roberds et al., 1993)...
- glycoprotein. Loss of the
sarcoglycan complex and
sarcospan alone is
sufficient to
cause muscular dystrophy. The role of the
sarcoglycan complex and sarcospan...
-
localizes to 8p22. This
protein is part of the
sarcoglycan complex, a
group of 6 proteins. The
sarcoglycans are all N-glycosylated
transmembrane proteins...
