Specific Disruption of a Schwann Cell Dystrophin-Related Protein Complex in a Demyelinating Neuropathy

Sherman, Diane L.; Fabrizi, Cinzia; Gillespie, C S; Brophy, Peter

doi:10.1016/s0896-6273(01)00327-0

Cited by 174 publications

(211 citation statements)

References 61 publications

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“…Disruption of the DRP2-dystroglycan complex is followed by hypermyelination and destabilization of the Schwann cell-axon unit in Prx (À/À) mice. 23 However, no human pathology has been reported due to any mutation in these genes. Both patients presented with recurrent infections and hearing loss as typical symptoms of contiguous gene deletion syndrome of XLA and MTS, and showed no pathological findings which might be associated with the deletion of TAF7L and DRP2 genes.…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

et al. 2011

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Patients with X-linked agammaglobulinemia (XLA) can present with sensorineural deafness. This can result from a gross deletion that not only involved the Bruton's tyrosine kinase (BTK) gene, but also TIMM8A, mutations in which underlie the MohrTranebjaerg syndrome (MTS). We analyzed the genomic break points observed in three XLA-MTS patients and compared these with deletions break points from XLA patients. Patient 1 had a 63-kb deletion with break points in intron 15 of BTK and 4 kb upstream of TAF7L. Patients 2 and 3 had 149.7 and 196 kb deletions comprising BTK, TIMM8A, TAF7L and DRP2. The break points in patients 1 and 3 were located in Alu and endogenous retrovirus (ERV) repeats, whereas the break points in patient 2 did not show involvement of transposable elements. Comparison of gross deletion sizes and involvement of transposable elements in XLA and XLA-MTS patients from the literature showed preferential involvement of Alu elements in smaller deletions (o10 kb). These results show further insights into the molecular mechanisms underlying gross deletions in patients with primary immunodeficiency.

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Section: Discussionmentioning

confidence: 99%

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

et al. 2011

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“…L-periaxin on the abaxonal surface of myelinated Schwann cells forms a complex with dystrophin-related protein 2 linking the basal lamina outside the cell to the cytoskeleton within the cell (Scherer et al 1995;Sherman and Brophy 2000;Sherman et al 2001). This suggests that PRX alters the role in the stage of myelination and plays significant roles in the formation and maintenance of myelin and in the signal transduction from the extracellular matrix to the cytoskeleton of myelinating Schwann cells.…”

Section: Discussionmentioning

confidence: 99%

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease

et al. 2006

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Periaxin (PRX) plays an important role in the myelination of the peripheral nerve and consequently in the pathogenesis of Charcot-Marie-Tooth disease (CMT). To date, nine nonsense or frameshift PRX mutations have been reported in eight families with CMT. The patients with PRX mutations appeared to show characteristic clinical features with early onset but slow or no progression, a common result of mutations that lead to missing a C-terminal acidic domain. Here, we report a Japanese CMT patient with these characteristic clinical features, who was a compound heterozygote for PRX R1070X and L132FsX153 mutations. We previously reported that three Japanese isolated families also had the homozygous R1070X mutation. To examine the potential founder effect of the R1070X mutation in the Japanese population, we performed haplotype analysis and found that each R1070X allele lay on a different haplotype background in these four families. Therefore, the high frequency of the R1070X mutation among the Japanese population is not likely the consequence of a founder effect, but probably a result of a mutation hot spot.

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“…L-periaxin is required for the formation of the DG-dystrophin-related protein-2 (DG-DRP2) complex and is involved in the link between the ECM and the Schwann cell cytoskeleton (Sherman et al, 2001). Schwann cells lacking L-periaxin exhibit disruption of the Cajal bands, a cellular structure with a nutritive function, resulting in reduced Schwann cell length during nerve growth (Court et al, 2004).…”

Section: Laminin Signaling In Schwann Cell Morphogenesismentioning

confidence: 99%

Regulation of Schwann cell function by the extracellular matrix

Chernousov

Chen

et al. 2008

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Laminins and collagens are extracellular matrix proteins that play essential roles in peripheral nervous system development. Laminin signals regulate Schwann cell proliferation and survival as well as actin cytoskeleton dynamics, which are essential steps for radial sorting and myelination of peripheral axons by Schwann cells. Collagen and their receptors promote Schwann cell adhesion, spreading, and myelination as well as neurite outgrowth. In this article, we will review the recent advances in the studies of laminin and collagen function in Schwann cell development. V V C

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Specific Disruption of a Schwann Cell Dystrophin-Related Protein Complex in a Demyelinating Neuropathy

Cited by 174 publications

References 61 publications

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease

Regulation of Schwann cell function by the extracellular matrix

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