Myoclonus dystonia and muscular dystrophy: ɛ‐sarcoglycan is part of the dystrophin‐associated protein complex in brain
AJ Waite, FA Carlisle, YM Chan… - Movement Disorders, 2016 - Wiley Online Library
… a muscular dystrophy-associated β-sarcoglycan mutant into … Our failure to detect γ-sarcoglycan
when the ɛ-sarcoglycan-2… the low-peptide coverage of γ-sarcoglycan when the pan ɛ-…
when the ɛ-sarcoglycan-2… the low-peptide coverage of γ-sarcoglycan when the pan ɛ-…
[HTML][HTML] Duchenne muscular dystrophy
… DMD mutations 13 . Female carriers (that is, those with a DMD mutation on one X chromosome)
… Collectively, dystrophin and its binding partners form the dystrophin-associated protein …
… Collectively, dystrophin and its binding partners form the dystrophin-associated protein …
Pathogenesis, clinical features and diagnosis of sarcoglycanopathies
C Angelini, M Fanin - Expert Opinion on Orphan Drugs, 2016 - Taylor & Francis
… to dystrophin, called dystrophin-associated glycoprotein (DAG) … with or without overt
muscular dystrophy [Citation151]. The … A novel γ-sarcoglycan mutation causing childhood onset, …
muscular dystrophy [Citation151]. The … A novel γ-sarcoglycan mutation causing childhood onset, …
N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy
… A dystroglycan mutation associated with limb- girdle muscular dystrophy. The New England
Journal of Medicine 364:939–946. DOI: https://doi.org/10.1056/NEJMoa1006939, PMID: …
Journal of Medicine 364:939–946. DOI: https://doi.org/10.1056/NEJMoa1006939, PMID: …
[PDF][PDF] The sarcoglycan complex in skeletal muscle
H Tarakci, J Berger - Front Biosci (Landmark Ed), 2016 - article.imrpress.com
… known as the dystrophin-associated glycoprotein complex (… for the Δ525T mutation in γ-sarcoglycan
have been identified … of γ-sarcoglycan in mice induces severe muscular dystrophy (…
have been identified … of γ-sarcoglycan in mice induces severe muscular dystrophy (…
Non-glycanated biglycan and LTBP4: leveraging the extracellular matrix for Duchenne muscular dystrophy therapeutics
JR Fallon, EM McNally - Matrix Biology, 2018 - Elsevier
… Like mutations in dystrophin and its associated proteins, … of the mature dystrophin-associated
protein complex isolated … of α- and γ-sarcoglycan in immature muscle and also regulates …
protein complex isolated … of α- and γ-sarcoglycan in immature muscle and also regulates …
[HTML][HTML] Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D
JR Mickelson, KM Minor, LT Guo, SG Friedenberg… - Skeletal muscle, 2021 - Springer
… muscular dystrophy, was suspected based on immunostaining and western blotting, where α,
β, and γ-sarcoglycan were … identified a premature stop codon mutation in the sarcoglycan A …
β, and γ-sarcoglycan were … identified a premature stop codon mutation in the sarcoglycan A …
Muscular Dystrophies
BL Gaspar, RK Vasishta, BD Radotra… - … to Skeletal Muscle …, 2019 - Springer
… location within the dystrophin-associated protein complex (DAPC… Mutations in SGCE gene
have been associated with a … mutations are not associated with any muscular dystrophies [59]. …
have been associated with a … mutations are not associated with any muscular dystrophies [59]. …
Dystroglycan N-terminal domain enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy
… muscular dystrophy. However, little is known regarding mechanisms that generate full-length
matriglycan on α-DG (∼150-250 kDa). Here, we show that LARGE1 can only synthesize a …
matriglycan on α-DG (∼150-250 kDa). Here, we show that LARGE1 can only synthesize a …
Genetic modifiers of D uchenne and facioscapulohumeral muscular dystrophies
RM Hightower, MS Alexander - Muscle & nerve, 2018 - Wiley Online Library
… that is caused by inherited or spontaneous genetic mutations… These proteins are part
of a dystrophin-associated protein … was initially identified from a screen of γ-sarcoglycan (Sgcg)-null …
of a dystrophin-associated protein … was initially identified from a screen of γ-sarcoglycan (Sgcg)-null …