FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle

Mutations in FAMIN cause arthritis and inflammatory bowel disease in early childhood, and a common genetic variant increases the risk for Crohn's disease and leprosy. We developed an unbiased liquid chromatography-mass spectrometry screen for enzymatic activity of this orphan protein. We report...

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Publicado en:Cell
Main Authors: Cader, M. Zaeem, de Almeida Rodrigues, Rodrigo Pereira, West, James A., Sewell, Gavin W., Md-Ibrahim, Muhammad N., Reikine, Stephanie, Sirago, Giuseppe, Unger, Lukas W., Inglesias-Romero, Ana Belén, Ramshorn, Katharina, Haag, Lea-Maxie, Saveljeva, Svetlana, Ebel, Jana-Fabienne, Rosenstiel, Philip, Kaneider, Nicole C., Lee, James C., Lawley, Trevor D., Bradley, Allan, Dougan, Gordon, Modis, Yorgo, Griffin, Julian L., Kaser, Arthur
Formato: Artigo
Idioma:Inglês
Publicado: Cell Press 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978800/
https://ncbi.nlm.nih.gov/pubmed/31978345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2019.12.017
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