Ideker T

References (2)

Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506
Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG
Ref : Science , 343 :506 , 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.
ESTHER : Novarino_2014_Science_343_506
PubMedSearch : Novarino_2014_Science_343_506
PubMedID: 24482476

Title : Transcriptome profiling to identify genes involved in peroxisome assembly and function - Smith_2002_J.Cell.Biol_158_259
Author(s) : Smith JJ , Marelli M , Christmas RH , Vizeacoumar FJ , Dilworth DJ , Ideker T , Galitski T , Dimitrov K , Rachubinski RA , Aitchison JD
Ref : Journal of Cell Biology , 158 :259 , 2002
Abstract : Yeast cells were induced to proliferate peroxisomes, and microarray transcriptional profiling was used to identify PEX genes encoding peroxins involved in peroxisome assembly and genes involved in peroxisome function. Clustering algorithms identified 224 genes with expression profiles similar to those of genes encoding peroxisomal proteins and genes involved in peroxisome biogenesis. Several previously uncharacterized genes were identified, two of which, YPL112c and YOR084w, encode proteins of the peroxisomal membrane and matrix, respectively. Ypl112p, renamed Pex25p, is a novel peroxin required for the regulation of peroxisome size and maintenance. These studies demonstrate the utility of comparative gene profiling as an alternative to functional assays to identify genes with roles in peroxisome biogenesis.
ESTHER : Smith_2002_J.Cell.Biol_158_259
PubMedSearch : Smith_2002_J.Cell.Biol_158_259
PubMedID: 12135984
Gene_locus related to this paper: yeast-YOR084W