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This site is dedicated to scientific community working on ALS. Our aim is to optimize researchers time and efforts by providing updated, well organized information on novel findings, available resources and research support.
AriSLA - The Foundation for research on ALS - has been set up to make ALS research investments more effective and efficient, to speed up the clinical research impact e and to provide patients with better care, improved conditions and life expectancy. Its aim is to boost Italian excellencies in basic, clinical and technological research. The Foundation founders are Fondazione Cariplo, Fondazione Telethon, Fondazione Vialli and Mauro and AISLA.

 

 

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

"EXOMEFALS" and "NOVALS" - 2 projects funded by AriSLA - contributed in the identification of new risk genes and pathways associated with ALS 

Science. 2015 Feb 19

Cirulli ET1, Lasseigne BN2, Petrovski S3, Sapp PC4, Dion PA5, Leblond CS5, Couthouis J6, Lu YF3, Wang Q3, Krueger BJ3, Ren Z3, Keebler J7, Han Y7, Levy SE2, Boone BE2, Wimbish JR2, Waite LL2, Jones AL2, Carulli JP8, Day-Williams AG8, Staropoli JF8, Xin WW9, Chesi A6, Raphael AR6, McKenna-Yasek D4, Cady J10, Vianney de Jong JM11, Kenna KP12, Smith BN13, Topp S13, Miller J13, Gkazi A13; FALS Sequencing Consortium, Al-Chalabi A13, van den Berg LH14, Veldink J14, Silani V15, Ticozzi N15, Shaw CE13, Baloh RH16, Appel S17, Simpson E17, Lagier-Tourenne C18, Pulst SM19, Gibson S19, Trojanowski JQ20, Elman L21, McCluskey L21, Grossman M22, Shneider NA23, Chung WK24, Ravits JM25, Glass JD26, Sims KB9, Van Deerlin VM20, Maniatis T27, Hayes SD28, Ordureau A29, Swarup S29, Landers J4, Baas F11, Allen AS30, Bedlack RS31, Harper JW29, Gitler AD6, Rouleau GA5, Brown R4, Harms MB10, Cooper GM2, Harris T32, Myers RM2, Goldstein DB3 Abstract

 

Abstract:

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. Here we report the results of a moderate-scale sequencing study aimed at identifying new genes contributing to predisposition for ALS. We performed whole exome sequencing of 2,874 ALS patients and compared them to 6,405 controls. Several known ALS genes were found to be associated, and the non-canonical IκB kinase family TANK-Binding Kinase 1 (TBK1) was identified as an ALS gene. TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. These observations reveal a key role of the autophagic pathway in ALS and suggest specific targets for therapeutic intervention.

 

Further information:

http://www.ncbi.nlm.nih.gov/pubmed/25700176

 

 

 




     
     
     
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