UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Conclusions:
UFM1 encodes ubiquitin-fold modifier 1 (UFM1), a member of the ubiquitin-like family involved in posttranslational modification of proteins. Its exact biological role is unclear. This study associates a UFM1 gene defect with a disease and sheds new light on possible UFM1 functional networks.

Source: Neurology - October 23, 2017 Category: Neurology Authors: Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojcakova, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., van der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M., van der Kna Tags: MRI, Leukodystrophies, All Pediatric, All Genetics ARTICLE Source Type: research