Extensive phenotypic characterisation of a human TDP-43^Q331K transgenic mouse model of amyotrophic lateral sclerosis (ALS).

ABSTRACT: The majority of preclinical studies in ALS have relied on transgenic models with overexpression of mutant human superoxide dismutase 1 (SOD1), widely regarded to have failed in terms of translation of therapeutic effects. However, there are still no widely accepted models of other genetic subtypes of ALS. The majority of patients show ubiquitinated cytoplasmic inclusions of TAR DNA binding protein of 43 kilodaltons (TDP-43) in spinal motor neurons at the end stage of disease and a small proportion have mutations in TARDBP, the gene encoding TDP-43. TDP-43 transgenic mouse models have been produced, but have not been widely adopted. Here, we characterised one of these models available from the Jackson Laboratory in detail. Compared to TDP-43^WT mice, TDP-43^Q331K mice ha

SUBMITTER: Watkins JA 

PROVIDER: S-EPMC8370970 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature