Publications by authors named "Francesca A Veneri"
Mutations in myelin protein zero (MPZ) are generally associated with Charcot-Marie-Tooth type 1B (CMT1B) disease, one of the most common forms of demyelinating neuropathy. Pathogenesis of some MPZ mutants, such as S63del and R98C, involves the misfolding and retention of MPZ in the endoplasmic reticulum (ER) of myelinating Schwann cells. To cope with proteotoxic ER-stress, Schwann cells mount an unfolded protein response (UPR) characterized by activation of the PERK, ATF6 and IRE1α/XBP1 pathways.
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- Mutations in the Myelin Protein Zero gene (MPZ) lead to Charcot-Marie-Tooth (CMT) type 1B neuropathy, primarily through gain-of-function effects, with misglycosylation being a significant factor affecting the P0 protein's functionality.
- Researchers created a mouse model with the MPZD61N mutation to study the effects of hyperglycosylation, which caused early-onset CMT1B symptoms, including tremors and motor impairment.
- The study revealed that the mutant P0D61N does not induce significant endoplasmic reticulum stress but disrupts myelin structure, making the MPZD61N/+ mouse a useful model for exploring potential treatments for severe CMT