Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/14/18/2717/6949279/ddi305.pdf
Reference46 articles.
1. Gloyn, A.L., Pearson, E.R., Antcliff, J.F., Proks, P., Bruining, G.J., Slingerland, A.S., Howard, N., Srinivasan, S., Silva, J.M., Molnes, J. et al. ( 2004 ) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med. , 350 , 1838 –1849.
2. Sagen, J.V., Raeder, H., Hathout, E., Shehadeh, N., Gudmundsson, K., Baevre, H., Abuelo, D., Phornphutkul, C., Molnes, J., Bell, G. et al. ( 2004 ) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes , 53 , 2713 –2718.
3. Vaxillaire, M., Populaire, C., Buisiah, K., Cave, H., Gloyn, A.L., Hattersley, A.T., Czernichow, P., Froguel, P. and Polak, M. ( 2004 ) Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes , 53 , 2719 –2722.
4. Massa, O., Iafusco, D., D'Amato, E., Gloyn, A.L., Hattersley, A.T., Pasquino, B., Tonini, G., Dammacco, F., Zanette, G., Meschi, F. et al. ( 2005 ) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum. Mutat. , 25 , 22 –27.
5. Codner, E., Flanagan, S., Ellard, S., Garcia, H. and Hattersley, A.T. ( 2005 ) High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabet. Care , 28 , 758 –759.
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4. A computational structural biology study to understand the impact of mutation on structure–function relationship of inward-rectifier potassium ion channel Kir6.2 in human;Journal of Biomolecular Structure and Dynamics;2020-03-04
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