Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia-Reference-Cited by-同舟云学术

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia

Published:2017-05-23 Issue:8 Volume:102 Page:2914-2921
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Minic Marina¹²,Rocha Nuno¹²,Harris Julie¹²,Groeneveld Matthijs P¹²,Leiter Sarah¹²,Wareham Nicholas³,Sleigh Alison⁴⁵,De Lonlay Pascale⁶⁷⁸,Hussain Khalid⁹,O’Rahilly Stephen¹²,Semple Robert K¹²

Affiliation:

1. The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council (MRC) Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom

2. The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom

3. MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, United Kingdom

4. Wolfson Brain Imaging Centre, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 0QQ, United Kingdom

5. National Institute for Health Research/Wellcome Trust Clinical Research Facility, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, United Kingdom

6. Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, 75270 Paris Cedex 06, France

7. Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France

8. Institut Imagine, Institut National de la Sante et de la Recherche Médicale, Unité 1163, 75015 Paris, France

9. Department of Pediatric Medicine, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/102/8/2914/19452816/jc.2017-00768.pdf

Reference23 articles.

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2. An activating mutation of AKT2 and human hypoglycemia;Hussain;Science,2011

3. A transforming mutation in the pleckstrin homology domain of AKT1 in cancer;Carpten;Nature,2007

4. Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain;Landgraf;Biochemistry,2008

5. Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia;Arya;J Clin Endocrinol Metab,2014

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