Table 3 List of neurodegenerative diseases caused by NF dysmetabolism
Mechanism | Disease | Inheritance | Mutated gene | Protein function | References |
|---|---|---|---|---|---|
Deleterious mutations in NF genes | Charcot-Marie-Tooth 2E (CMT2E) | Dominant | NEFL | Â | [91] |
Charcot-Marie-Tooth 1F (CMT1F) | Recessive | NEFL | Â | [92] | |
Charcot-Marie-Tooth 2CC (CMT2CC) | Dominant | NEFH | Â | [93] | |
Deleterious mutations in genes involved in NF degradation | Giant axonal neuropathy (GAN) | Recessive | GAN | NF-specific adaptor for the Cullin3-E3 ubiquitin ligase complex | [94] |
Giant axonal neuropathy 2 (GAN2) | Dominant | DCAF8 | NF-specific adaptor for the Cullin4-E3 ubiquitin ligase complex | [95] | |
Charcot-Marie-Tooth 2F (CMT2F) | Dominant | HSPB1 | Chaperone protein assisting nascent NFs in acquiring the correct conformation | [96] | |
Charcot-Marie-Tooth 2 L (CMT2L) | Dominant | HSPB8 | Chaperone protein assisting nascent NFs in acquiring the correct conformation | [97] | |
Charcot-Marie-Tooth 2R (CMT2R) | Recessive | TRIM2 | E3 ligase specific for NF-L | [98] | |
Myofibrillar myopathy 6 (MFM6) | Dominant | BAG3 | Co-chaperone for HSP70 protein family | [99] |