Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome-Reference-Cited by-同舟云学术

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

Published:2015-03-21 Issue:7 Volume:167 Page:1501-1509
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dikoglu Esra¹,Alfaiz Ali²³,Gorna Maria⁴,Bertola Deborah⁵,Chae Jong Hee⁶,Cho Tae-Joon⁶,Derbent Murat⁷,Alanay Yasemin⁸,Guran Tulay⁹,Kim Ok-Hwa¹⁰,Llerenar Jr Juan C.¹¹,Yamamoto Guillerme⁵,Superti-Furga Giulio⁴,Reymond Alexandre²,Xenarios Ioannis³,Stevenson Brian³,Campos-Xavier Belinda¹,Bonafé Luisa¹,Superti-Furga Andrea¹²,Unger Sheila¹³

Affiliation:

1. Centre des Maladies Moléculaires CHUV; University of Lausanne; Switzerland

2. Center for Integrative Genomics (CIG); University of Lausanne; Lausanne Switzerland

3. Swiss Institute of Bioinformatics; Lausanne Switzerland

4. Research Center for Molecular Medicine of the Austrian Academy of Sciences; Vienna; Austria

5. Genetics Unit; Instituto da Criança; HC/FMUSP; Sao Paulo Brazil

6. Department of Orthopaedic Surgery; Seoul National Univ Children's Hospital; Seoul South Korea

7. Pediatric Genetics Unit; Department of Pediatrics; Başkent University Faculty of Medicine; Ankara Turkey

8. Pediatric Genetics; Department of Pediatrics; Acibadem University School of Medicine; Istanbul Turkey

9. Division of Pediatric Endocrinology; Department of Pediatrics; Marmara University Hospital; Istanbul Turkey

10. Radiology; Woorisoa Children's Hospital; Seoul Korea

11. Centro de Genética Médica; Instituto Fernandes Fugueira/Fiocruz; Rio de Janeiro Brazil

12. Department of Pediatrics; CHUV; University of Lausanne; Switzerland

13. Medical Genetics Service; CHUV; University of Lausanne; Switzerland

Funder

Brazil-Switzerland Joint Research Program CoSMO-B

Swiss National Foundation

University of Lausanne (Fonds de Développement de la Recherche en Pédiatrie)

Leenaards Foundation in Lausanne (www.leenaards.ch)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease;Alfaiz;Hum Mutat,2014

2. Epiphyseal, vertebral, and ear (EVE) dysplasia: A new syndrome?;Amiel;J Med Genet,1999

3. Effect of Lon protease knockdown on mitochondrial function in HeLa cells;Bayot;Biochimie,2014

4. Downregulation of human Lon protease impairs mitochondrial structure and function and causes cell death;Bota;Free Radic Biol Med,2005

5. CODAS syndrome: A new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report;Cabral de Almeida;Am J Med Genet,1995

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