A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. [electronic resource]
Producer: 20120709Description: 730-50 p. digitalISSN:- 1460-2083
- Age of Onset
- Alleles
- Animals
- Astrocytes -- pathology
- Brain -- metabolism
- Carrier Proteins -- chemistry
- Cholesterol -- metabolism
- DNA Mutational Analysis
- Disease Models, Animal
- Disease Progression
- Endoplasmic Reticulum Stress
- Gangliosides -- metabolism
- Homozygote
- Humans
- Intracellular Signaling Peptides and Proteins
- Lipid Metabolism
- Lung -- cytology
- Macrophages -- metabolism
- Membrane Glycoproteins -- chemistry
- Mice
- Microglia -- pathology
- Myelin Sheath
- Niemann-Pick C1 Protein
- Niemann-Pick Disease, Type C -- genetics
- Phenotype
- Point Mutation -- genetics
- Proteostasis Deficiencies
- Purkinje Cells -- pathology
- RNA, Messenger -- analysis
- Reflex, Startle
- Survival Rate
No physical items for this record
Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.