Animal models for muscular dystrophy: valuable tools for the development of therapies

V Allamand, KP Campbell - Human Molecular Genetics, 2000 - academic.oup.com
Since the identification of dystrophin as the causative factor in Duchenne muscular
dystrophy, an increasing amount of information on the molecular basis of muscular …

[HTML][HTML] Modeling human muscle disease in zebrafish

JR Guyon, LS Steffen, MH Howell, TJ Pusack… - … et Biophysica Acta (BBA …, 2007 - Elsevier
Zebrafish reproduce in large quantities, grow rapidly, and are transparent early in
development. For these reasons, zebrafish have been used extensively to model vertebrate …

Dystrophin and muscular dystrophy: past, present, and future

KF O'Brien, LM Kunkel - Molecular Genetics and Metabolism, 2001 - Elsevier
Duchenne muscular dystrophy was described in the medical literature in the early 1850s but
the molecular basis of the disease was not determined until the late 1980s. The cloning of …

Bidirectional signaling between sarcoglycans and the integrin adhesion system in cultured L6 myocytes

T Yoshida, Y Pan, H Hanada, Y Iwata… - Journal of Biological …, 1998 - ASBMB
The rat L6 skeletal muscle cell line was used to study expression of the dystrophin-
containing glycoprotein complex and its interaction with the integrin system involved in the …

Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy

EM McNally, D Duggan… - Human molecular …, 1996 - academic.oup.com
Recently, mutations in the genes encoding several of the dystrophin-associated proteins
have been identified that produce phenotypes ranging from severe Duchenne-like …

Elevated subcortical choline metabolites in cognitively and clinically asymptomatic HIV patients

DJ Meyerhoff, C Bloomer, V Cardenas, D Norman… - Neurology, 1999 - AAN Enterprises
Objective: To determine whether the concentrations of the neuronal marker N-
acetylaspartate (NAA) and the choline-containing metabolites (Cho) are altered in the …

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

M Zatz, M Vainzof… - Current opinion in …, 2000 - journals.lww.com
Among 14 limb-girdle muscular dystrophy genes that have been mapped, 10 (three
autosomal dominant and seven autosomal recessive) have so far had their product …

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

AJ Van der Kooi, M Van Meegen… - American journal of …, 1997 - ncbi.nlm.nih.gov
Limb-girdle muscular dystrophy (LGMD) constitutes a clinically and genetically
heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness. One …

γ1-and γ2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells

G Piluso, M Mirabella, E Ricci, A Belsito… - Journal of Biological …, 2000 - ASBMB
Dystrophin is the scaffold of a protein complex, disrupted in inherited muscular dystrophies.
At the last 3′ terminus of the gene, a protein domain is encoded, where syntrophins are …

The sarcoglycan complex in limb–girdle muscular dystrophy

LE Lim, KP Campbell - Current opinion in neurology, 1998 - journals.lww.com
The involvement of the sarcoglycan complex in the pathogenesis of muscular dystrophy is
becoming increasingly clear. Sarcoglycan gene mutations lead to four forms of autosomal …