Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders-Reference-Cited by-同舟云学术

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Published:2014-01-31 Issue:6170 Volume:343 Page:506-511
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Novarino Gaia¹,Fenstermaker Ali G.¹,Zaki Maha S.²,Hofree Matan³,Silhavy Jennifer L.¹,Heiberg Andrew D.¹,Abdellateef Mostafa¹,Rosti Basak¹,Scott Eric¹,Mansour Lobna⁴,Masri Amira⁵,Kayserili Hulya⁶,Al-Aama Jumana Y.⁷,Abdel-Salam Ghada M. H.²,Karminejad Ariana⁸,Kara Majdi⁹,Kara Bulent¹⁰,Bozorgmehri Bita⁸,Ben-Omran Tawfeg¹¹,Mojahedi Faezeh¹²,Mahmoud Iman Gamal El Din⁴,Bouslam Naima¹³,Bouhouche Ahmed¹³,Benomar Ali¹³,Hanein Sylvain¹⁴,Raymond Laure¹⁴,Forlani Sylvie¹⁴,Mascaro Massimo¹,Selim Laila⁴,Shehata Nabil¹⁵,Al-Allawi Nasir¹⁶,Bindu P.S.¹⁷,Azam Matloob¹⁸,Gunel Murat¹⁹,Caglayan Ahmet¹⁹,Bilguvar Kaya¹⁹,Tolun Aslihan²⁰,Issa Mahmoud Y.²,Schroth Jana¹,Spencer Emily G.¹,Rosti Rasim O.¹,Akizu Naiara¹,Vaux Keith K.¹,Johansen Anide¹,Koh Alice A.¹,Megahed Hisham²,Durr Alexandra¹⁴²¹,Brice Alexis¹⁴²¹²²,Stevanin Giovanni¹⁴²¹²²²³,Gabriel Stacy B.²⁴,Ideker Trey³,Gleeson Joseph G.¹

Affiliation:

1. Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.

2. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.

3. Department of Computer Science and Engineering and Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.

4. Department of Pediatric Neurology, Neurometabolic Unit, Cairo University Children’s Hospital, Cairo 406, Egypt.

5. Division of Child Neurology, Department of Pediatrics, University of Jordan, Amman 11942, Jordan.

6. Istanbul University, Istanbul Medical Faculty, Medical Genetics Department, 34093 Istanbul, Turkey.

7. Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

8. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

9. Department of Pediatrics, Tripoli Children’s Hospital, Tripoli, Libya.

10. Kocaeli University, Medical Faculty, Department of Pediatric Neurology, 41380 Umuttepe, Kocaeli, Turkey.

11. Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.

12. Mashhad Medical Genetic Counseling Center, 91767 Mashhad, Iran.

13. Université Mohammed V Souissi, Equipe de Recherché de Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco.

14. Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.

15. Department of Pediatrics and Neonatology, Saudi German Hospital, Post Office Box 84348, Riyadh, Kingdom of Saudi Arabia.

16. Department of Pathology, School of Medicine, University of Dohuk, Dohuk, Iraq.

17. Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

18. Department of Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan.

19. Department of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.

20. Department of Molecular Biology and Genetics, Bogazici University, 34342 Istanbul, Turkey.

21. Assistance Publique–Hôpitaux de Paris, Fédération de Génétique, Pitié-Salpêtrière Hospital, 75013 Paris, France.

22. Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France.

23. Laboratoire de Neurogénétique, Ecole Pratique des Hautes Etudes, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France.

24. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.

Abstract

Neurodegenerative Genetics The underlying genetics of neurodegenerative disorders tend not to be well understood. Novarino et al. (p. 506 ; see the Perspective by

Singleton

) investigated the underlying genetics of hereditary spastic paraplegia (HSP), a human neurodegenerative disease, by sequencing the exomes of individuals with recessive neurological disorders. Loss-of-function gene mutations in both novel genes and genes previously implicated for this condition were identified, and several were functionally validated.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference51 articles.

1. Cellular Pathways of Hereditary Spastic Paraplegia

2. HomozygosityMapper--an interactive approach to homozygosity mapping

3. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

4. Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

5. Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

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