Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.

ABSTRACT:

Background

Ceroid lipofuscinosis type 8 belongs to a heterogenous group of vision and life-threatening neurodegenerative diseases, neuronal ceroid lipofuscinosis (NCL). Effective therapy is limited to a single drug for treatment of ceroid lipofuscinosis type 2, necessitating animal disease models to facilitate further therapeutic development. Murine models are advantageous for therapeutic development due to easy genetic manipulation and rapid breeding, however appropriate genetic models need to be identified and characterized before being used for therapy testing. To date, murine models of ocular disease associated with ceroid lipofuscinosis type 8 have only been characterized in motor neuron degeneration mice.

Methods

Cln8^-/- mice were produced by CRISPR/C

SUBMITTER: Salpeter EM 

PROVIDER: S-EPMC8421982 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature