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The utrophin gene is closely related to the dystrophin gene in both sequence and genomic structure. The Duchenne muscular dystrophy (DMD) locus encodes three 14-kb dystrophin transcripts in addition to several smaller isoforms, one of which, Dp116, is specific to peripheral nerve. We describe here the corresponding 5.5-kb mRNA from the utrophin locus. This(More)
Insulin-like growth factor I (IGF-1) is an important peptide synthesized in response to growth hormone stimulation. Alternative promoters and an elaborate alternative splicing regulated in a tissue-and developmentally-specific manner result in the production of several distinct isoforms of IGF-1 [reviewed in Gorecki et al. (2007); Matheny et al. (2010)].(More)
Dystrophin and dystroglycan messenger RNAs are expressed in specific brain areas, including regions of the cortex and the hippocampus, and in such neurons dystrophin has been localized to postsynaptic densities. In the present study we examined by in situ hybridization the effect of neuronal activation and neurotoxicity induced by kainate and(More)
Cognitive impairment occurs in one-third of patients with Duchenne muscular dystrophy, a lethal X-linked, recessive disease caused by mutations in the dystrophin gene which is expressed in both brain and muscle, the two transcripts having alternative first exons. Previous reports have indicated that the 'brain-type' dystrophin transcript predominates in(More)
Duchenne muscular dystrophy (DMD) is accompanied by varying degrees of mental retardation. The molecular basis for this is unknown, although at least four dystrophin transcripts regulated by specific promoters and undergoing elaborate splicing control are present in brain areas associated with cognitive function. In muscle the absence of dystrophin causes(More)
Alpha dystroglycan (156 kDa DAG) and beta dystroglycan (43 kDa DAG) are encoded by the same gene and are components of the dystrophin-associated membrane glycoprotein complex. The dystroglycans together with dystrophin form a link between the extracellular matrix and the intracellular cytoskeleton of the muscle fibre. Using in situ hybridisation to mRNA in(More)
P2X4 and P2X7 are the predominant P2X receptor subtypes expressed in immune cells. Having previously shown a structural and functional interaction between the two recombinant receptors, our aims here were to identify the preferred assembly pathway of the endogenous receptors in macrophage-like cells and to investigate the trafficking of these receptors(More)
The importance of dystrophin and its associated proteins in normal muscle function is now well established. Many of these proteins are expressed in nonmuscle tissues, particularly the brain. Here we describe the characterization of beta-dystrobrevin, a dystrophin-related protein that is abundantly expressed in brain and other tissues, but is not found in(More)