A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium-Reference-Cited by-同舟云学术

A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Published:2013-11-13 Issue:1 Volume:35 Page:137-146
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Thomas Sophie¹²,Wright Kevin J.³,Corre Stéphanie Le⁴,Micalizzi Alessia⁵⁶,Romani Marta⁵,Abhyankar Avinash⁷,Saada Julien⁸,Perrault Isabelle¹²,Amiel Jeanne¹²⁹,Litzler Julie⁹,Filhol Emilie²¹⁰,Elkhartoufi Nadia⁹,Kwong Mandy³,Casanova Jean-Laurent²⁷¹¹,Boddaert Nathalie²¹²,Baehr Wolfgang¹³,Lyonnet Stanislas¹²⁹,Munnich Arnold¹²⁹,Burglen Lydie¹⁴,Chassaing Nicolas¹⁵,Encha-Ravazi Ferechté¹²⁹,Vekemans Michel¹²⁹,Gleeson Joseph G.¹⁶,Valente Enza Maria⁵,Jackson Peter K.³,Drummond Iain A.⁴¹⁷,Saunier Sophie²¹⁰,Attié-Bitach Tania¹²⁹

Affiliation:

1. INSERM U781; Hôpital Necker-Enfants Malades; Paris France

2. Université Paris Descartes; Sorbonne Paris Cité, Institut Imagine France

3. Genentech Inc; South San Francisco; California 94080

4. Nephrology Division; Massachusetts General Hospital; Boston Massachusetts 02129

5. Mendel Laboratory; Istituto di Ricovero e Cura a Carattere Scientifico «Casa Sollievo della Sofferenza » San Giovanni Rotondo; Italy

6. Department of Medical and Surgical Paediatric Sciences; University of Messina; Messina Italy

7. St. Giles Laboratory of Human Genetics of Infectious Diseases; The Rockefeller University; New York

8. Service de Gynécologie obstétrique; Hôpital Antoine-Béclère, Assistance Publique - Hôpitaux de Paris (AP-HP); Clamart France

9. Département de Génétique; Hôpital Necker-Enfants Malades; AP-HP Paris France

10. INSERM U983; Hôpital Necker-Enfants Malades; Paris France

11. Laboratory of Human Genetics of Infectious Diseases INSERM U980; Necker Medical School; Paris France

12. Service de radiologie Pédiatrique; Hôpital Necker-Enfants Malades, AP-HP; Paris France

13. University of Utah Health Science Center; Salt Lake City Utah 84132

14. AP-HP, Hôpital Trousseau; Centre de référence des malformations et maladies congénitales du cervelet et Service de génétique; Paris 75012 France

15. Service de génétique médicale; CHU de Toulouse; EA-4555 UPSIII; Toulouse France

16. Neurogenetics Laboratory; Institute for Genomic Medicine, Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California; San Diego California

17. Department of Genetics; Harvard Medical School; Boston Massachusetts 02115

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies;Bielas;Nat Genet,2009

2. Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency;Bogunovic;Science,2012

3. Whole-exome-sequencing-based discovery of human FADD deficiency;Bolze;Am J Hum Genet,2010

4. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma;Byun;J Exp Med,2010

5. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia;Gherman;Nat Genet,2006

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