• Novel UCHL1 mutations reveal new insights into ubiquitin processing 

      Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje Haug; Vigeland, Magnus Dehli; Bjørås, Magnar; Tallaksen, Chantal; Selmer, Kaja Kristine (Journal article; Peer reviewed, 2017)
      Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 has been implicated in early-onset progressive neurodegeneration (MIM no. 615491), so far only in one family. In this study a second family is characterized, ...