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Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 05/2017, Volume 21, Issue 5, pp. 848 - 859
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2/2012, Volume 21, Issue 4, pp. 730 - 750
We have identified a point mutation in Npc1 that creates a novel mouse model (Npc1nmf164 ) of Niemann-Pick type C1 (NPC) disease: a single nucleotide change (A... 
STARTLE RESPONSE | MURINE MODEL | PROTEIN | LIPID STORAGE DISORDER | NEURONAL CHOLESTEROL | GENE | PREPULSE INHIBITION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NCTR-BALB/C MICE | ACOUSTIC STARTLE | EXPRESSION | Membrane Glycoproteins - metabolism | Humans | Membrane Glycoproteins - chemistry | Astrocytes - pathology | RNA, Messenger - analysis | Lung - cytology | Niemann-Pick Disease, Type C - physiopathology | Niemann-Pick Disease, Type C - pathology | Niemann-Pick Disease, Type C - metabolism | Brain - metabolism | Point Mutation - genetics | DNA Mutational Analysis | Gangliosides - metabolism | Microglia - pathology | Reflex, Startle | Carrier Proteins - chemistry | Disease Models, Animal | RNA, Messenger - genetics | Lipid Metabolism | Survival Rate | Cholesterol - metabolism | Disease Progression | Membrane Glycoproteins - genetics | Proteostasis Deficiencies | Carrier Proteins - genetics | Homozygote | Macrophages - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Endoplasmic Reticulum Stress | Myelin Sheath | Age of Onset | Alleles | Mice | Niemann-Pick Disease, Type C - genetics | Purkinje Cells - pathology | Cerebellum | Niemann-Pick disease | Spleen | Animal models | Liver | Motor activity | Cortex | Cholesterol | Protein turnover | Cell activation | Glycolipids | Life span | Magnetic resonance imaging | Demyelination | Purkinje cells | gait | Point mutation | Npc1 protein | Acoustic startle response
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2013, Volume 8, Issue 12, p. e82685
Journal Article