Dystroglycan-dystrophin complexes are believed to have structural and signaling functions by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules. Here we characterize a dystroglycan-dystrophin-related protein 2 (DRP2) complex at the surface of myelin-forming Schwann cells. The complex is clustered by the interaction of DRP2 with L-periaxin, a homodimeric P...

Mutations inDRP2 (OMIM #300052) encoding dystrophin-related protein 2, a 957 amino acid protein, were identified in a single patient with X-linked Charcot-Marie-Tooth (CMT) disease and are associated with familial autism. DRP2 is predominantly expressed in the brain and spinal cord and functionally interacts with periaxin (PRX, OMIM #605725), a known causative CMT gene (OMIM #614895 and #145900...

Dystrophin-dystroglycan complexes in Schwann cells may play a role in both signaling and structural interactions between the extracellular matrix and the cytoskeleton. Sherman et al. (2001) show that a new complex containing dystrophin-related protein 2 (DRP2) and periaxin plays a role in Schwann cell-basal lamina interactions and PNS myelination.

Cajal bands are cytoplasmic channels flanked by appositions where the abaxonal surface of Schwann cell myelin apposes and adheres to the overlying plasma membrane. These appositions contain a dystroglycan complex that includes periaxin and dystrophin-related protein 2 (Drp2). Loss of periaxin disrupts appositions and Cajal bands in Schwann cells and causes a severe demyelinating neuropathy in m...

Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...

The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene and four smaller proteins transcribed from internal promoters located further...

Charcot-Marie-Tooth (CMT) disease comprises up to 80 monogenic inherited neuropathies of the peripheral nervous system (PNS) that collectively result in demyelination and axon degeneration. The majority of CMT disease is primarily either dysmyelinating or demyelinating in which mutations affect the ability of Schwann cells to either assemble or stabilize peripheral nerve myelin. CMT4F is a rece...

Merlin *merlin/NF2 Merlin NFM-1 Protein 4.1 4.1R, G, N, B Coracle Spectrin α-spectrin (1–2), β-spectrin (1–4), β heavy-spectrin/ karst α-spectrin, β-spectrin, β heavyspectrin/Karst SPC-1 (α-spectrin), UNC-70 (β-spectrin), SMA-1 (β heavyspectrin) Cell-Cell Junctions α-catenin α-catenin 1–3 α-catenin HMP-1 Afadin afadin/AF6 Canoe AFD-1 ZO-1 ZO-1, ZO-2, ZO-3 ZO-1/Polychaetoid †Q56VX4 Cell-Extracel...

Charcot-Marie-Tooth (CMT) disease comprises up to 80 monogenic inherited neuropathies of the peripheral nervous system (PNS) that collectively result in demyelination and axon degeneration. The majority of CMT disease is primarily either dysmyelinating or demyelinating in which mutations affect the ability of Schwann cells to either assemble or stabilize peripheral nerve myelin. CMT4F is a rece...

background: dihydropyrimidinase related proteins (drps) have known homologous to the collapsing response mediator proteins (crmps). the drp gene family has comprised four members, drp 1, 2, 3, and 4, all out of which have considered to be involved in axonal outgrowth and path-finding. methods: the protein has extracted from tumor, normal brain tissues, and then the protein purity has evaluated ...