Journal article
Unfolded protein response, treatment and CMT1B
Rare diseases (Austin, Tex.), Vol.1(1), pp.e24049-e24049
2013
DOI: 10.4161/rdis.24049
PMCID: PMC3915562
PMID: 25002989
Abstract
CMT1B is the second most frequent autosomal dominant inherited neuropathy and is caused by assorted mutations of the myelin protein zero (MPZ) gene. MPZ mutations cause neuropathy gain of function mechanisms that are largely independent MPZs normal role of mediating myelin compaction. Whether there are only a few or multiple pathogenic mechanisms that cause CMT1B is unknown. Arg98Cys and Ser63Del MPZ are two CMT1B causing mutations that have been shown to cause neuropathy in mice at least in part by activating the unfolded protein response (UPR). We have recently treated Arg98Cys mice with derivatives of curcumin that improved the neuropathy and reduced UPR activation.(1) Future studies will address whether manipulating the UPR will be a common or rare strategy for treating CMT1B or other forms of inherited neuropathies.
Details
- Title: Subtitle
- Unfolded protein response, treatment and CMT1B
- Creators
- Yunhong Bai - Department of Neurology; Carver College of Medicine; University of Iowa; Iowa City, IA USAAgnes Patzko - Department of Neurology; Carver College of Medicine; University of Iowa; Iowa City, IA USAMichael E Shy - Department of Neurology; Carver College of Medicine; University of Iowa; Iowa City, IA USA
- Resource Type
- Journal article
- Publication Details
- Rare diseases (Austin, Tex.), Vol.1(1), pp.e24049-e24049
- Publisher
- United States
- DOI
- 10.4161/rdis.24049
- PMID
- 25002989
- PMCID
- PMC3915562
- ISSN
- 2167-5511
- eISSN
- 2167-5511
- Language
- English
- Date published
- 2013
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984013922402771
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