The muscular dystrophies

AEH Emery - The Lancet, 2002 - thelancet.com
The muscular dystrophies are inherited myogenic disorders characterised by progressive
muscle wasting and weakness of variable distribution and severity. They can be subdivided …

Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

[HTML][HTML] AMPK activation regulates LTBP4-dependent TGF-β1 secretion by pro-inflammatory macrophages and controls fibrosis in Duchenne muscular dystrophy

G Juban, M Saclier, H Yacoub-Youssef, A Kernou… - Cell reports, 2018 - cell.com
Chronic inflammation and fibrosis characterize Duchenne muscular dystrophy (DMD). We
show that pro-inflammatory macrophages are associated with fibrosis in mouse and human …

Defective membrane repair in dysferlin-deficient muscular dystrophy

D Bansal, K Miyake, SS Vogel, S Groh, CC Chen… - Nature, 2003 - nature.com
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by
wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically …

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

KA Lapidos, R Kakkar, EM McNally - Circulation research, 2004 - Am Heart Assoc
The dystrophin glycoprotein complex (DGC) is a specialization of cardiac and skeletal
muscle membrane. This large multicomponent complex has both mechanical stabilizing and …

Striated muscle cytoarchitecture: an intricate web of form and function

KA Clark, AS McElhinny, MC Beckerle… - Annual review of cell …, 2002 - annualreviews.org
▪ Abstract Striated muscle is an intricate, efficient, and precise machine that contains
complex interconnected cytoskeletal networks critical for its contractile activity. The …

Dystroglycan: from biosynthesis to pathogenesis of human disease

R Barresi, KP Campbell - Journal of cell science, 2006 - journals.biologists.com
α-and β-dystroglycan constitute a membrane-spanning complex that connects the
extracellular matrix to the cytoskeleton. Although a structural role for dystroglycan had been …

Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy

FS Tedesco, MFM Gerli, L Perani, S Benedetti… - Science translational …, 2012 - science.org
Mesoangioblasts are stem/progenitor cells derived from a subset of pericytes found in
muscle that express alkaline phosphatase. They have been shown to ameliorate the …

Cell therapy of α-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts

M Sampaolesi, Y Torrente, A Innocenzi, R Tonlorenzi… - Science, 2003 - science.org
Preclinical or clinical trials for muscular dystrophies have met with modest success, mainly
because of inefficient delivery of viral vectors or donor cells to dystrophic muscles. We report …

Molecular basis of muscular dystrophies

RD Cohn, KP Campbell - Muscle & nerve, 2000 - Wiley Online Library
Muscular dystrophies represent a heterogeneous group of disorders, which have been
largely classified by clinical phenotype. In the last 10 years, identification of novel skeletal …