NDLI: Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Content Provider	PubMed Central
Author	Gaia, Novarino Fenstermaker, Ali G. Zaki, Maha S. Hofree, Matan Silhavy, Jennifer L. Heiberg, Andrew D. Mostafa, Abdellateef Rosti, Basak Scott, Eric Mansour, Lobna Masri, Amira Kayserili, Hulya Al-aama, Jumana Y. Abdel-salam, Ghada M. H. Karminejad, Ariana Kara, Majdi Kara, Bulent Bita, Bozorgmehri Ben-omran, Tawfeg Mojahedi, Faezeh Mahmoud, Iman Gamal El Din Naima, Bouslam Bouhouche, Ahmed Benomar, Ali Sylvain, Hanein Raymond, Laure Forlani, Sylvie Mascaro, Massimo Selim, Laila Shehata, Nabil Nasir, Al-allawi Bindu, P. S. Azam, Matloob Gunel, Murat Caglayan, Ahmet Kaya, Bilguvar Tolun, Aslihan Issa, Mahmoud Y. Schroth, Jana Spencer, Emily G. Rosti, Rasim O. Akizu, Naiara Vaux, Keith K. Johansen, Anide Koh, Alice A. Hisham, Megahed Durr, Alexandra Brice, Alexis Giovanni, Stevanin Gabriel, Stacy B. Ideker, Trey Gleeson, Joseph G.
Copyright Year	2014
Abstract	Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Related Links	http://dx.doi.org/10.1126/science.1247363
Ending Page	511
Page Count	6
Starting Page	506
File Format	PDF
ISSN	00368075
e-ISSN	10959203
Journal	Science (New York, N.Y.)
Issue Number	6170
Volume Number	343
Language	English
Publisher Date	2014-01-31
Access Restriction	Open
Subject Keyword	General Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	History and Philosophy of Science

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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