Amyotrophic Lateral Sclerosis and Other TDP-43 Proteinopathies

Jorge Gomez-Deza*, Christopher E. Shaw

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Citation (Scopus)


The transactivation response DNA binding protein (TDP-43) is an RNA-binding protein involved in the processing of hundreds to thousands of RNA transcripts. This protein becomes mislocalized to the cytoplasm and forms characteristic inclusions found in most cases of amyotrophic lateral sclerosis (ALS) and many cases of frontotemporal dementia. Rare mutations in the gene encoding TDP-43 also cause ALS. Herein, we briefly review the genetics, pathology, and molecular and cellular basis of ALS, with a particular focus on TDP-43 and related TDP-43 proteinopathies. Dysfunctional TDP-43 can affect multiple cellular pathways, leading to cellular stress and neurodegeneration. Further elucidation of the normal and pathological role of TDP-43 may reveal strategies for the development of effective therapeutics.

Original languageEnglish
Title of host publicationThe Molecular and Cellular Basis of Neurodegenerative Diseases
Subtitle of host publicationUnderlying Mechanisms
PublisherElsevier Inc.
Number of pages17
ISBN (Electronic)9780128113059
ISBN (Print)9780128113042
Publication statusPublished - 4 Apr 2018


  • Frontotemporal dementia
  • Protein inclusions
  • RNA processing
  • Stress granules


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