Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

@inproceedings{Hwang2011UbiquitinLO,
  title={Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome},
  author={Cheol-Sang Hwang and Maja Sukalo and Olga Batygin and Marie-Claude Addor and Han G. Brunner and Antonio Perez Aytes and Julia Mayerle and Hyun Kyu Song and Alexander Varshavsky and Martin Zenker},
  booktitle={PloS one},
  year={2011}
}
BACKGROUND Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and frequent mental retardation. Our previous work has shown that JBS is caused by mutations in human UBR1, which encodes one of the E3 ubiquitin ligases of the N-end rule pathway. The N-end rule relates the regulation of the in vivo half-life of a protein… CONTINUE READING
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UBR1, the N-end-rule pathway and the Johanson-Blizzard syndrome

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  • 2008
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