Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression.

ABSTRACT:

Background

Neuronal ceroid lipofuscinoses, (NCLs or Batten disease) are a group of inherited, early onset, fatal neurodegenerative diseases associated with mutations in 13 genes. All forms of the disease are characterized by lysosomal accumulation of fluorescent storage material, as well as profound neurodegeneration, but the relationship of the various genes' function to a single biological process is not obvious. In this study, we used a well-characterized mouse model of classical late infantile NCL (cLINCL) in which the tripeptidyl peptidase 1 (Tpp1) gene is disrupted by gene targeting, resulting in loss of detectable TPP1 activity and leading to progressive neurological phenotypes including ataxia, increased motor deficiency, and early death.

Methods

In order to identify

SUBMITTER: Domowicz MS 

PROVIDER: S-EPMC8576919 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature