title: Computational analysis of a novel SACS gene mutation with BioExtract server.
abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a distinct form of hereditary early-onset spastic ataxia caused by cerebellum and spinal cord degeneration. The SACS gene has been demonstrated to be responsible for the disease through worldwide description of different mutations. We report here a computational analysis of a novel SACS gene mutation identified in a Tunisian family, using workflow implemented on the BioExtract Server. Several online computational tools are currently available to explore the effect of novel identified mutations in human and other organisms. Such analysis is time-consuming and generates a batch of files that researchers need to extract and save. The BioExtract Server workflow described here offers an easy way to execute the required tools together, avoiding entering queries independently in each web tool or service.
authors.affiliation: Computer Science Department, University of South Dakota, 414 E. Clark St., Vermillion, SD 57069, USA. yosr.bouhlal@gmail.com
authors.forename: Yosr
authors.initials: Y
authors.lastname: Bouhlal
authors.forename: Douglas M
authors.initials: DM
authors.lastname: Jennewein
authors.forename: Brent
authors.initials: B
authors.lastname: Anderson
authors.forename: Joe
authors.initials: J
authors.lastname: Reynoldson
authors.forename: Wiem
authors.initials: W
authors.lastname: Maamouri
authors.forename: Fayçal
authors.initials: F
authors.lastname: Hentati
authors.forename: Rim
authors.initials: R
authors.lastname: Amouri
authors.forename: Carol
authors.initials: C
authors.lastname: Lushbough
mesh_terms: D019295:Computational Biology / Q000379:methods*; D003198:Computer Simulation; D003199:Computer Systems; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods*; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D009128:Muscle Spasticity / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000151:congenital / Q000235:genetics; D014416:Tunisia
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human