Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis-Reference-Cited by-同舟云学术

Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis

Published:2016-10-24 Issue:2 Volume:32 Page:333-346
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Le Stunff Catherine¹,Tilotta Francoise²,Sadoine Jérémy²,Le Denmat Dominique²,Briet Claire¹,Motte Emmanuelle¹,Clauser Eric³,Bougnères Pierre¹,Chaussain Catherine²⁴⁵,Silve Caroline¹⁵⁶

Affiliation:

1. INSERM U1169; University Paris Sud, Hôpital Bicêtre; Le Kremlin Bicêtre France

2. EA 2496 Laboratory Orofacial Pathologies, Imagery and Biotherapies; Dental School and Life imaging Platform (PIV), University Paris Descartes Sorbonne Paris Cité; Montrouge France

3. INSERM U970; University Paris Descartes, Paris Centre de Recherche Cardiovasculaire (PARCC); Paris France

4. Assistance Publique-Hôpitaux de Paris (AP-HP) Odontology Department Bretonneau; Louis Mourier, Hôpitaux Universitaires Paris Nord Val de Seine; Paris France

5. Centre de Référence des Maladies Rares du Métabolisme du Phosphore et du Calcium and Filière de Santé Maladies Rares OSCAR; AP-HP Paris France

6. Service de Biochimie et Génétique Moléculaire, Hôpital Cochin; AP-HP Paris France

Funder

INSERM and Assistance Publique-Hôpitaux de Paris

Paris Descartes for EA2496 and PIV

La Société Française d'Endocrinologie

Société Française d'Endocrinologie

Elizabeth Huc and Nicolas Perez for their help in breeding the mice; Pauline Gaignard

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

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3. Inherited diseases involving g proteins and g protein-coupled receptors;Spiegel;Annu Rev Med,2004

4. PKA-I holoenzyme structure reveals a mechanism for cAMP-dependent activation;Kim;Cell,2007

5. Structure, function, and regulation of human cAMP-dependent protein kinases;Tasken;Adv Second Messenger Phosphoprotein Res,1997

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