UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase

Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer from Kaufman oculocerebrofacial syndrome (KOS, also reported as blepharophimosis-ptosis-inte...

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Bibliografiske detaljer
Udgivet i:J Biol Chem
Main Authors: Braganza, Andrea, Li, Jianfeng, Zeng, Xuemei, Yates, Nathan A., Dey, Nupur B., Andrews, Joel, Clark, Jennifer, Zamani, Leila, Wang, Xiao-hong, St. Croix, Claudette, O'Sullivan, Roderick, Garcia-Exposito, Laura, Brodsky, Jeffrey L., Sobol, Robert W.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2017
Fag:
Protein Synthesis and Degradation
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5313114/
https://ncbi.nlm.nih.gov/pubmed/28003368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.766824
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