Article
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.
Human molecular genetics - 1 Jun 2018
Gupta Priya R, Pendse Nachiket, Greenwald Scott H, Leon Mihoko, Liu Qin, Pierce Eric A, Bujakowska Kinga M
Abstract excerpt
Intraflagellar transport (IFT) is a bidirectional transport process that occurs along primary cilia and specialized sensory cilia, such as photoreceptor outersegments. Genes coding for various IFT components are associated with ciliopathies. Mutations in IFT172 lead to diseases ranging from isolated retinal degeneration to severe syndromic ciliopathies. In this study, we created a mouse model of IFT172-associated...
Topics
- Adaptor Proteins, Signal Transducing
- Animals
- Carrier Proteins
- Cilia
- Cytoskeletal Proteins
- Disease Models, Animal
- Electroretinography
- Humans
- Intracellular Signaling Peptides and Proteins
- Mice
- Mice, Knockout
- Mutation
- Retina