Computational analysis of a novel SACS gene mutation with BioExtract server

Yosr Bouhlal, Douglas M. Jennewein, Brent Anderson, Joe Reynoldson, Wiem Maamouri, Fayçal Hentati, Rim Amouri, Carol Lushbough

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)53-58
Number of pages6
JournalJournal of Molecular Neuroscience
Issue number1
StatePublished - May 2011
Externally publishedYes


  • BioExtract
  • Mutation
  • SACS
  • Workflow

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience


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