Novel UCHL1 mutations reveal new insights into ubiquitin processing
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DOI: 10.1093/hmg/ddw391
Abstract: 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, and… read more here.
Keywords: ubiquitin processing; reveal new; uchl1 mutations; activity ... See more keywords