Article
The effect of rod domain A148V mutation of neurofilament light chain on filament formation.
BMB reports - 31 Dec 2008
Lee In-Bum, Kim Sung-Kuk, Chung Sang-Hee, Kim Ho, Kwon Taeg Kyu, Min Do Sik, Chang Jong-Soo
Abstract excerpt
Neurofilaments (NFs) are neuronal intermediate filaments composed of light (NF-L), middle (NF-M), and heavy (NF-H) subunits. NF-L self-assembles into a "core" filament with which NF-M or NF-H co-assembles to form the neuronal intermediate filament. Recent reports show that point mutations of the NF-L gene result in Charcot-Marie-Tooth disease (CMT). However, the most recently described rod domain mutant of human...
Topics
- Alanine
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Base Sequence
- Cell Line
- DNA Primers
- DNA, Complementary
- Humans
- Intermediate Filaments
- Multiprotein Complexes
- Mutagenesis, Site-Directed
- Neurofilament Proteins
- Neurons