| 1 | SPG79, UCHL1 |
| Novel UCHL1 mutations reveal new insights into ubiquitin processing. | |
| Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK. | |
| Hum Mol Genet 26(6):1031-1040. doi: 10.1093/hmg/ddw391. 2017 | |
| 2 | SPG79, UCHL1 |
| Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. | |
| Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. | |
| Proc Natl Acad Sci U S A 110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28. 2013 | |