dystrophin

Dystroglycan mediates clustering of essential GABAergic components in cerebellar Purkinje cells

Muscle dystrophin–glycoprotein complex (DGC) links the intracellular cytoskeleton to the extracellular matrix. In neurons, dystroglycan and dystrophin, two major components of the DGC, localize in a subset of GABAergic synapses, where their function is unclear. Here we used mouse models to analyze the specific role of the DGC in the organization and function of inhibitory synapses. Loss of full-length dystrophin in mdx mice resulted in a selective depletion of the transmembrane β-dystroglycan isoform from inhibitory post-synaptic sites in cerebellar Purkinje cells.

Dystrophin is required for the proper timing in retinal histogenesis: a thorough investigation on the mdx mouse model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a lethal X-linked muscular disease caused by
defective expression of the cytoskeletal protein dystrophin (Dp427). Selected autonomic
and central neurons, including retinal neurons, express Dp427 and/or dystrophin shorter
isoforms. Because of this, DMD patients may also experience different forms of cognitive
impairment, neurological and autonomic disorders, and specific visual defects. DMDrelated
damages to the nervous system are established during development, suggesting

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