1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
- Author
-
Faezeh Mojahedi, Hülya Kayserili, Naiara Akizu, Basak Rosti, Eric Scott, Iman G. Mahmoud, Maha S. Zaki, Jennifer L. Silhavy, Laure Raymond, Ariana Karminejad, Nasir A. S. Al-Allawi, Jana Schroth, Massimo Mascaro, Hisham Megahed, Anide Johansen, Gaia Novarino, Matan Hofree, Tawfeg Ben-Omran, Kaya Bilguvar, Andrew Heiberg, Nabil Shehata, Ali G. Fenstermaker, Laila Selim, Alice A. Koh, Ahmed Bouhouche, Amira Masri, Naima Bouslam, Alexandra Durr, S. Gabriel, Mostafa Abdellateef, Emily Spencer, Matloob Azam, Murat Gunel, Rasim Ozgur Rosti, Ghada M H Abdel-Salam, Bita Bozorgmehri, Bülent Kara, Mahmoud Y. Issa, Aslıhan Tolun, Majdi Kara, Parayil Sankaran Bindu, Trey Ideker, Ali Benomar, Ahmet Okay Caglayan, Joseph G. Gleeson, Sylvie Forlani, Jumana Y. Al-Aama, Sylvain Hanein, Keith K. Vaux, Alexis Brice, Giovanni Stevanin, and Lobna Mansour
- Subjects
Candidate gene ,Gene regulatory network ,Pyramidal Tracts ,Biology ,medicine.disease_cause ,Transcriptome ,Synapse ,Cohort Studies ,medicine ,Animals ,Humans ,Exome ,Gene Regulatory Networks ,Motor Neuron Disease ,Exome sequencing ,Genetic Association Studies ,Zebrafish ,Genetics ,Neurons ,Mutation ,Multidisciplinary ,Pyramidal tracts ,Nucleotides ,Spastic Paraplegia, Hereditary ,Biological Transport ,Sequence Analysis, DNA ,Axons ,medicine.anatomical_structure ,Synapses - 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.
- Published
- 2014