TY  - GEN
AU  - Maue,Robert A
AU  - Burgess,Robert W
AU  - Wang,Bing
AU  - Wooley,Christine M
AU  - Seburn,Kevin L
AU  - Vanier,Marie T
AU  - Rogers,Maximillian A
AU  - Chang,Catherine C
AU  - Chang,Ta-Yuan
AU  - Harris,Brent T
AU  - Graber,David J
AU  - Penatti,Carlos A A
AU  - Porter,Donna M
AU  - Szwergold,Benjamin S
AU  - Henderson,Leslie P
AU  - Totenhagen,John W
AU  - Trouard,Theodore P
AU  - Borbon,Ivan A
AU  - Erickson,Robert P
TI  - A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
SN  - 1460-2083
PY  - 2012///0709
KW  - Age of Onset
KW  - Alleles
KW  - Animals
KW  - Astrocytes
KW  - pathology
KW  - Brain
KW  - metabolism
KW  - Carrier Proteins
KW  - chemistry
KW  - Cholesterol
KW  - DNA Mutational Analysis
KW  - Disease Models, Animal
KW  - Disease Progression
KW  - Endoplasmic Reticulum Stress
KW  - Gangliosides
KW  - Homozygote
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Lipid Metabolism
KW  - Lung
KW  - cytology
KW  - Macrophages
KW  - Membrane Glycoproteins
KW  - Mice
KW  - Microglia
KW  - Myelin Sheath
KW  - Niemann-Pick C1 Protein
KW  - Niemann-Pick Disease, Type C
KW  - genetics
KW  - Phenotype
KW  - Point Mutation
KW  - Proteostasis Deficiencies
KW  - Purkinje Cells
KW  - RNA, Messenger
KW  - analysis
KW  - Reflex, Startle
KW  - Survival Rate
N1  - Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddr505
ER  -