Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

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 b...

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Main Authors: Bilguvar, Kaya, Tyagi, Navneet K., Ozkara, Cigdem, Tuysuz, Beyhan, Bakircioglu, Mehmet, Choi, Murim, Delil, Sakir, Caglayan, Ahmet O., Baranoski, Jacob F., Erturk, Ozdem, Yalcinkaya, Cengiz, Karacorlu, Murat, Dincer, Alp, Johnson, Michele H., Mane, Shrikant, Chandra, Sreeganga S., Louvi, Angeliki, Boggon, Titus J., Lifton, Richard P., Horwich, Arthur L., Gunel, Murat
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2013
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3587195/
https://ncbi.nlm.nih.gov/pubmed/23359680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1222732110
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