Article
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Human molecular genetics - 15 Mar 2017
Rydning Siri L, Backe Paul H, Sousa Mirta M L, Iqbal Zafar, Øye Ane-Marte, Sheng Ying, Yang Mingyi, Lin Xiaolin, Slupphaug Geir, Nordenmark Tonje H, Vigeland Magnus D, Bjørås Magnar, Tallaksen Chantal M, Selmer Kaja K
Abstract excerpt
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 the functional consequences of the identified mutations in UCHL1 are explored. Three siblings developed childhood-onset optic atrophy, followed by spasticity and ataxia. Whole exome...
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