Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)
DJ Duggan, D Manchester, KP Stears, DJ Mathews… - Neurogenetics, 1997 - Springer
… of numerous α-, β-, and γ-sarcoglycan gene mutations in a patient population … in chromosome
13 muscular … form of autosomal muscular dystrophy: Deficiency of dystrophin-associated …
13 muscular … form of autosomal muscular dystrophy: Deficiency of dystrophin-associated …
Novel sarcoglycan gene mutations in a large cohort of Italian patients
C Boito, M Fanin, G Siciliano, C Angelini… - Journal of medical …, 2003 - jmg.bmj.com
… δ-SG, is part of the dystrophin associated glycoprotein (DAG) … of SG gene mutations in
a cohort of muscular dystrophy/… missense mutation in the extracellular domain of γ-sarcoglycan. …
a cohort of muscular dystrophy/… missense mutation in the extracellular domain of γ-sarcoglycan. …
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
WM Franz, M Muller, OJ Muller, R Herrmann… - The Lancet, 2000 - thelancet.com
… and γ-sarcoglycan in cardiac and skeletal muscle. … led to Duchenne muscular dystrophy with
no dystrophin protein detectable. … mutations result in a specific loss of dystrophin-associated …
no dystrophin protein detectable. … mutations result in a specific loss of dystrophin-associated …
Mutations in the sarcoglycan genes in patients with myopathy
DJ Duggan, JR Gorospe, M Fanin… - … England Journal of …, 1997 - Mass Medical Soc
… limb-girdle muscular dystrophy have mutations in the genes … of the other dystrophin-associated
proteins (dystroglycans and … the patients with mutations in the β- or γ-sarcoglycan gene in …
proteins (dystroglycans and … the patients with mutations in the β- or γ-sarcoglycan gene in …
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex
M Vainzof, ES Moreira, G Ferraz… - European Journal of …, 1999 - nature.com
… form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet 1995… Mutations
in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy…
in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy…
Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers
CD Blasi, L Morandi, R Barresi, F Blasevich… - Acta …, 1996 - Springer
… expression of the DAPs β-dystroglycan, α-sarcoglycan, γ-sarcoglycan and syntro- … ) Mutations
in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. …
in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. …
Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in γ-sarcoglycan-deficient mice
T Sasaoka, M Imamura, K Araishi, S Noguchi… - Neuromuscular …, 2003 - Elsevier
… , we utilized a mutant mouse as a model animal. In this study, we … Three dystrophin-associated
proteins bind directly to the carboxy-terminal … in chromosome 13 muscular dystrophy …
proteins bind directly to the carboxy-terminal … in chromosome 13 muscular dystrophy …
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy
L Metzinger, DJ Blake, MV Squier… - Human molecular …, 1997 - academic.oup.com
… kDa postsynaptic protein dystrobrevin, a dystrophin-associated protein. Anti… (34) and our own
show that γ-sarcoglycan is more loosely associated … in chromosome 13 muscular dystrophy …
show that γ-sarcoglycan is more loosely associated … in chromosome 13 muscular dystrophy …
Overexpression of γ-sarcoglycan induces severe muscular dystrophy: implications for the regulation of sarcoglycan assembly
X Zhu, M Hadhazy, ME Groh, MT Wheeler… - Journal of Biological …, 2001 - ASBMB
… Primary mutations in dystrophin lead to drastic reduction of dystrophin-associated proteins
… respond differently in muscular dystrophy mediated by γ-sarcoglycan overexpression under …
… respond differently in muscular dystrophy mediated by γ-sarcoglycan overexpression under …
γ-Sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin
AA Hack, CT Ly, F Jiang, CJ Clendenin… - The Journal of cell …, 1998 - rupress.org
… γ-Sarcoglycan is a transmembrane, dystrophin-associated … in muscular dystrophy, we
targeted the murine γ-sarcoglycan … γ-sarcoglycan protein in homozygous mutant gsg −/− muscle (…
targeted the murine γ-sarcoglycan … γ-sarcoglycan protein in homozygous mutant gsg −/− muscle (…