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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
Assuntos:
Biological Sciences
Acesso em linha: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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