Title: TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?
Authors: Vanden Broeck, Lies
Callaerts, Patrick #
Dermaut, Bart # ×
Issue Date: Feb-2014
Publisher: Elsevier Science Ltd.
Series Title: Trends in Molecular Medicine vol:20 issue:2 pages:66-71
Article number: 10.1016/j.molmed.2013.11.003
Abstract: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are clinically distinct fatal neurodegenerative disorders. Increasing molecular evidence indicates that both disorders are linked in a continuous spectrum (ALS-FTD spectrum). Neuronal cytoplasmic inclusions consisting of the nuclear TAR DNA-binding protein 43 (TDP-43) are found in the large majority of patients in the ALS-FTD spectrum and dominant mutations in the TDP-43 gene cause ALS. A major unresolved question is whether TDP-43-mediated neuronal loss is caused by toxic gain of function of cytoplasmic aggregates, or by a loss of its normal function in the nucleus. Here we argue that based on recent genetic studies in worms, flies, fish, and rodents, loss of function of TDP-43, rather than toxic aggregates, is the key factor in TDP-43-related proteinopathies.
ISSN: 1471-4914
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Behavioral and Developmental Genetics
× corresponding author
# (joint) last author

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