1 | CMT2R, TRIM2 |
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. | |
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. | |
Hum Mol Genet 22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4. 2013 | |
2 | CMT2R, TRIM2 |
Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration. | |
Balastik M, Ferraguti F, Pires-da Silva A, Lee TH, Alvarez-Bolado G, Lu KP, Gruss P. | |
Proc Natl Acad Sci U S A 105(33):12016-21. doi: 10.1073/pnas.0802261105. Epub 2008 Aug 7. 2008 | |