Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration.
Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Pérez‐Siles, Bianca Rose Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby C.Y. Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A. Nicholson, Steve Vucic, Mario Saporta, Marina L. Kennerson
The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.
bioRxiv · Aug 16, 2022 · PreprintNeuroscience