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Exome sequencing was used to identify novel variants linked to amyotrophic lateral sclerosis (ALS), in a family without mutations in genes previously linked to ALS. A F115C mutation in the

Exome sequencing was used to identify novel variants linked to amyotrophic lateral sclerosis (ALS), in a family without mutations in genes previously linked to ALS. A F115C mutation in the gene MATR3 was identified, and further examination of other ALS kindreds identified an additional three mutations in MATR3; S85C, P154S and T622A. Matrin 3 is an RNA/DNA binding protein as well as part of the nuclear matrix. Matrin 3 interacts with TDP-43, a protein that is both mutated in some forms of ALS, and found in pathological inclusions in most ALS patients.

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    Date Created
    • 2018
    Resource Type
  • Text
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    • Partial requirement for: Ph.D., Arizona State University, 2018
      Note type
      thesis
    • Includes bibliographical references (pages 139-155)
      Note type
      bibliography
    • Field of study: Neuroscience

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    by Ashley Boehringer

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