Molecular mechanisms of inherited demyelinating neuropathies
Open Access
- 19 September 2008
- Vol. 56 (14), 1578-1589
- https://doi.org/10.1002/glia.20751
Abstract
The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the heterogeneity of dysmyelinating and demyelinating phenotypes. Here, we review selected recent developments from work on the molecular mechanisms of these disorders and their implications for treatment strategies.Keywords
This publication has 143 references indexed in Scilit:
- The molecular machinery of myelin gene transcription in Schwann cellsGlia, 2008
- The function of RhoGTPases in axon ensheathment and myelinationGlia, 2008
- Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutantsNeurobiology of Disease, 2008
- Ablation of the UPR-Mediator CHOP Restores Motor Function and Reduces Demyelination in Charcot-Marie-Tooth 1B MiceNeuron, 2008
- Messenger RNA regulation: to translate or to degradeThe EMBO Journal, 2008
- Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinctJournal of Neuroscience Research, 2007
- Interactions of Sox10 and Egr2 in myelin gene regulationNeuron Glia Biology, 2007
- Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4JNature, 2007
- The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperonesNeurobiology of Disease, 2007
- Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsNature Genetics, 2004