Myoclonus dystonia and muscular dystrophy: ɛ‐sarcoglycan is part of the dystrophinassociated 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-…

[HTML][HTML] Duchenne muscular dystrophy

D Duan, N Goemans, S Takeda, E Mercuri… - Nature Reviews …, 2021 - nature.com
… 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

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, …

N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy

H Okuma, JM Hord, I Chandel, D Venzke… - elife, 2023 - elifesciences.org
… 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: …

[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 (…

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 …

[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 …

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]. …

Dystroglycan N-terminal domain enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy

H Okuma, JM Hord, I Chandel, D Venzke… - bioRxiv, 2022 - biorxiv.org
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 …

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 …