Pathogenic mechanism of the FIG4 mutation responsible for charcot-marie-tooth disease CMT4J

Keyphrases

• Pathogenic Mechanism 100%
• Charcot-Marie-Tooth Disease 100%
• CMT4J 100%
• Mutant Protein 75%
• VAC14 75%
• Transcript Level 25%
• Mouse Model 25%
• Null Mice 25%
• Hypomorphic mutation 25%
• Scaffold Protein 25%
• Compound Heterozygous mutation 25%
• Transgenic 25%
• Human Disease 25%
• Long-term Survival 25%
• Complementary DNA (cDNA) 25%
• Severe Disease 25%
• Cultured Cells 25%
• Protease Inhibitors 25%
• Yeast Two-hybrid 25%
• MG132 25%
• Lethality 25%
• Null Allele 25%
• Patient Fibroblasts 25%
• Missense 25%
• Charcot-Marie-Tooth Neuropathy 25%
• Protein Instability 25%
• Transgenic Models 25%
• Phosphoserine Phosphatase 25%

Biochemistry, Genetics and Molecular Biology

• Mutant Protein 100%
• Allele 66%
• Transgene 33%
• Knockout Mouse 33%
• Mouse Model 33%
• Phosphoinositide 33%
• Scaffold Protein 33%
• Transgenics 33%
• Missense 33%
• Proteasome Inhibitor 33%
• Long Term Survival 33%
• Transgenic Organism 33%
• Null Allele 33%
• Two-Hybrid Screening 33%
• Phosphatase 33%
• Fibroblast 33%