Article
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Muscle & nerve - 1 Oct 2007
Keramaris-Vrantsis Elizabeth, Lu Pei J, Doran Timothy, Zillmer Allen, Ashar Jignya, Esapa Christopher T, Benson Matthew A, Blake Derek J, Rosenfeld Jeffrey, Lu Qi L
Abstract excerpt
Mutations in the fukutin-related protein gene (FKRP) are associated with a spectrum of diseases from mild limb-girdle muscular dystrophy type 2I to severe congenital muscular dystrophy type 1C, muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The effect of mutations on the transportation of the mutant proteins may constitute the underlying mechanisms for the pathogenesis of these diseases. Here...
Topics
- Animals
- Cell Line, Transformed
- Cricetinae
- Cricetulus
- Gene Expression
- Golgi Apparatus
- Humans
- Luminescent Proteins
- Mice
- Mice, Inbred C57BL
- Mice, Inbred mdx
- Mice, Transgenic
- Muscles