[HTML][HTML] … of Extracellular Vesicles-Capsulated Adeno-Associated Virus Vector via nSMase2/Smpd3, Satellite, and Immune Cells in Duchenne Muscular Dystrophy
Y Matsuzaka, Y Hirai, K Hashido, T Okada - International Journal of …, 2022 - mdpi.com
… muscular dystrophy (DMD) is caused by loss-of-function mutations in the dystrophin gene
on chromosome … degradation of the destabilized dystrophin-associated protein complex [154]. …
on chromosome … degradation of the destabilized dystrophin-associated protein complex [154]. …
[HTML][HTML] Humanizing the mdx mouse model of DMD: the long and the short of it
N Yucel, AC Chang, JW Day, N Rosenthal… - NPJ Regenerative …, 2018 - nature.com
… skeletal muscle disorder, Duchenne muscular dystrophy (DMD) … component of the
dystrophin-associated protein complex, … In-frame mutations leading to truncation of the protein …
dystrophin-associated protein complex, … In-frame mutations leading to truncation of the protein …
[HTML][HTML] Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
T Giugliano, M Fanin, M Savarese, G Piluso… - Neuromuscular …, 2016 - Elsevier
… muscular dystrophy with a proximal weakness in the limb-girdle … dystrophin- associated
SGC complex that fails to localize at the … for α- and γ-sarcoglycan showed an absent reaction. …
SGC complex that fails to localize at the … for α- and γ-sarcoglycan showed an absent reaction. …
[HTML][HTML] Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
EJ Wyatt, AR Demonbreun, EY Kim, MJ Puckelwartz… - JCI insight, 2018 - ncbi.nlm.nih.gov
… mutations in the SGCG gene, which encodes the dystrophin-associated protein γ-sarcoglycan…
the treatment of Duchenne muscular dystrophy (DMD), which is caused by mutations in the …
the treatment of Duchenne muscular dystrophy (DMD), which is caused by mutations in the …
[HTML][HTML] Clinical, pathological, and genetic features of two Chinese cases with filamin C myopathy
YT Zhang, CQ Pu, R Ban, HX Liu, Q Shi… - Chinese Medical …, 2018 - mednexus.org
… dystrophin-associated glycoprotein complex, and its expression is respectively deficient in
limb girdle muscular dystrophy … deficiency of membrane protein γ-sarcoglycan, but no ectopic …
limb girdle muscular dystrophy … deficiency of membrane protein γ-sarcoglycan, but no ectopic …
Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5)
H Ashokkumar, SU Bhatia, VAN Santhi… - BMJ Case Reports …, 2024 - casereports.bmj.com
… gene in chromosome 13 results in a stop codon and premature truncation of the protein at
codon 24… The SCGC mutation results in abnormal γ-sarcoglycan protein,5 which functions as a …
codon 24… The SCGC mutation results in abnormal γ-sarcoglycan protein,5 which functions as a …
[HTML][HTML] Advanced gene-targeting therapies for motor neuron diseases and muscular dystrophies
M Chamakioti, N Karantzelis, S Taraviras - International Journal of …, 2022 - mdpi.com
… mutation of the γ-sarcoglycan gene and no γ-sarcoglycan … proteins was observed in the
high-dose cohort, indicating that SRP-9003 may also restore the dystrophin-associated protein …
high-dose cohort, indicating that SRP-9003 may also restore the dystrophin-associated protein …
Independent variability of microtubule perturbations associated with dystrophinopathy
JJ Belanto, JT Olthoff, TL Mader… - Human molecular …, 2016 - academic.oup.com
… a 427-kDa cytoplasmic protein predominantly expressed in striated muscle (1). Mutations in
… lead to Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy, a milder form of …
… lead to Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy, a milder form of …
[HTML][HTML] Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
SY Jeong, JH Choi, J Kim, JS Woo, EH Lee - Cells, 2023 - mdpi.com
… skeletal muscular dystrophies in … mutants showed impaired E3 ubiquitin ligase activity
toward dysbindin in COS-7 cells [58]. Dysbindin is a member of the dystrophin-associated protein …
toward dysbindin in COS-7 cells [58]. Dysbindin is a member of the dystrophin-associated protein …
Dusp6 is a genetic modifier of growth through enhanced ERK activity
… from mutations that disrupt the γ-sarcoglycan (SGCG) gene. SGCG is a dystrophin associated
protein and its null mutations … gamma-sarcoglycan in chromosome 13 muscular dystrophy …
protein and its null mutations … gamma-sarcoglycan in chromosome 13 muscular dystrophy …