NeurosciencebioRxivPreprint
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…·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.
DOI 10.1101/2022.08.16.504208