Article

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy

2023-12-24

Abstract excerpt

PMP22 and MPZ are abundant myelin membrane proteins in Schwann cells. The MPZ adhesion protein holds myelin wraps together across the intraperiod line. PMP22 is a tetraspan protein belonging to the Claudin superfamily. Loss of either MPZ or PMP22 causes severe demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy, and duplication of PMP22 causes the most common form of CMT, CMT1A. Yet, the molecular functi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 475b59ca-a960-5cd1-9cb8-995b8e2f4107
DOI: 10.1101/2023.12.24.573255

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathyDOI 10.1101/2023.12.24.573255Read

The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.Semantic proximity Read

Many facets of the peripheral myelin protein PMP22 in myelination and disease.Semantic proximity Read

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure PalsiesSemantic proximity Read

Abnormal junctions and permeability of myelin in PMP22-deficient nerves.Semantic proximity Read

The PMP22 gene and its related diseases.Semantic proximity Read

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsSemantic proximity Read

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.Semantic proximity Read

High affinity cross-context cellular assays reveal novel protein-protein interactions of peripheral myelin protein of 22 kDaSemantic proximity Read

Phenotypic clustering in MPZ mutations.Semantic proximity Read

How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.Semantic proximity Read

Peripheral myelin protein 22 alters membrane architecture.Semantic proximity Read

Structural context of homomeric interactions in the lg domain of the MPZ (P0) myelin adhesion protein and relation to Charcot-Marie-Tooth disease phenotype variantsSemantic proximity Read