Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor...
Traffic - issue: 1 - volume: 8 - pages: 77-88.

Antagonists of beta-adrenergic receptors (beta-ARs) have become a main therapeutic regimen for the treatment of heart failure even though the mechanisms of their beneficial effects are still poorly...
J Clin Invest - issue: 1 - volume: 117 - pages: 229-235.

Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.

Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.

Calpains are Ca(2+)-dependent cysteine proteases known to be important for the regulation of cell functions and which aberrant activation causes cell death in a number of degenerative disorders. To...
J. Biol. Chem. - issue: 51 - volume: 281 - pages: 39672-39680.

Calpains are Ca2+-dependent cysteine proteases known to be important for the regulation of cell functions and which aberrant activation causes cell death in a number of degenerative disorders. To...
J. Biol. Chem. - issue: 51 - volume: 281 - pages: 39672-39680.

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.

To analyze individual steps of G(S)-linked signaling in intact cells, we used fluorescence resonance energy transfer (FRET)-based assays for receptor-G protein interaction, G protein activation, and...
J Biol Chem - issue: 44 - volume: 281 - pages: 33345-33351.

A current challenge in cellular signaling is to decipher the complex intracellular spatiotemporal organization that any given cell type has developed to discriminate among different external stimuli...
Circ Res - issue: 8 - volume: 99 - pages: 816-828.

The NK homeobox gene tinman (tin) is required for the specification of the cardiac, visceral muscle and somatic muscle progenitors in the early dorsal mesoderm of Drosophila. Like its vertebrate...
Development - issue: 20 - volume: 133 - pages: 4073-4083.

Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is caused by dominant point mutations in the gene GARS, encoding glycyl tRNA synthetase (GlyRS). Here we report a...
Neuron - issue: 6 - volume: 51 - pages: 715-726.

Calpain 3 is a 94-kDa calcium-dependent cysteine protease mainly expressed in skeletal muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the giant protein,...
FEBS J. - issue: 15 - volume: 273 - pages: 3427-3436.

Calpain 3 is a 94-kDa calcium-dependent cysteine protease mainly expressed in skeletal muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the giant protein,...
FEBS J. - issue: 15 - volume: 273 - pages: 3427-3436.

The cAMP pathway is of cardinal importance for heart physiology and pathology. The spatial organization of the various components of the cAMP pathway is thought to allow the segregation of functional...
Biochem Soc Trans - issue: Pt 4 - volume: 34 - pages: 484-488.

OBJECTIVE: Myocardial progenitor cells expressing Fgf10 give rise to the outflow tract and right ventricle of the mammalian heart. In order to define the role of fibroblast growth factor (FGF)...
Cardiovasc. Res. - issue: 1 - volume: 71 - pages: 50-60.

Since the description of Rett syndrome, only a handful of epidemiologic studies based only on clinical investigation have been reported. Mutations in the MECP2 gene are associated with Rett syndrome...
Pediatr. Neurol. - issue: 5 - volume: 34 - pages: 372-375.

Compartmentation of cAMP is thought to generate the specificity of Gs-coupled receptor action in cardiac myocytes, with phosphodiesterases (PDEs) playing a major role in this process by preventing...
Circ Res - issue: 8 - volume: 98 - pages: 1081-1088.

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.

Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially...
Neuromuscul. Disord. - issue: 3 - volume: 16 - pages: 208-209.