Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy.
We have identified and characterized a new peripheral myelin protein 22 (Pmp22) mouse mutant. The mutation results in a serine to threonine amino acid substitution at residue 72, which is a hot spot for mutation in human PMP22, leading to the peripheral neuropathy Dejerine-Sottas syndrome. We have p...
المؤلفون الرئيسيون: | Isaacs, A, Jeans, A, Oliver, P, Vizor, L, Brown, S, Hunter, A, Davies, K |
---|---|
التنسيق: | Journal article |
اللغة: | English |
منشور في: |
2002
|
مواد مشابهة
-
A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice
حسب: Marina Stavrou, وآخرون
منشور في: (2022-07-01) -
Candidate imaging biomarkers for PMP22‐related inherited neuropathies
حسب: Alison R. Roth, وآخرون
منشور في: (2022-07-01) -
Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression
حسب: Jenny Fortun, وآخرون
منشور في: (2006-04-01) -
Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo
حسب: Ji-Su Lee, وآخرون
منشور في: (2017-04-01) -
Variable phenotypes are associated with PMP22 missense mutations.
حسب: Russo, M, وآخرون
منشور في: (2011)