Ontology highlight
ABSTRACT:
SUBMITTER: Bilguvar K
PROVIDER: S-EPMC3587195 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Bilguvar Kaya K Tyagi Navneet K NK Ozkara Cigdem C Tuysuz Beyhan B Bakircioglu Mehmet M Choi Murim M Delil Sakir S Caglayan Ahmet O AO Baranoski Jacob F JF Erturk Ozdem O Yalcinkaya Cengiz C Karacorlu Murat M Dincer Alp A Johnson Michele H MH Mane Shrikant S Chandra Sreeganga S SS Louvi Angeliki A Boggon Titus J TJ Lifton Richard P RP Horwich Arthur L AL Gunel Murat M
Proceedings of the National Academy of Sciences of the United States of America 20130128 9
Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three siblings from a consanguineous union with a previously unreported early-onset progressive neurodegenerative syndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. Through homozygosity mapping of the affected individuals followed by whole-exome s ...[more]