Article
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex.
Nature medicine - 1 Feb 1999
Nishimura M, Yu G, Levesque G, Zhang D M, Ruel L, Chen F, Milman P, Holmes E, Liang Y, Kawarai T, Jo E, Supala A, Rogaeva E, Xu D M, Janus C, Levesque L, Bi Q, Duthie M, Rozmahel R, Mattila K, Lannfelt L, Westaway D, Mount H T, Woodgett J, St George-Hyslop P
Abstract excerpt
The presenilin proteins are components of high-molecular-weight protein complexes in the endoplasmic reticulum and Golgi apparatus that also contain beta-catenin. We report here that presenilin mutations associated with familial Alzheimer disease (but not the non-pathogenic Glu318Gly polymorphism...
Topics
- Alzheimer Disease
- Biological Transport
- Cell Line
- Cell Nucleus
- Cytoskeletal Proteins
- Humans
- Membrane Proteins
- Mutation
- NF-kappa B
- Presenilin-1
