A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

Human Molecular Genetics

Volumn 21, Issue 4, 2012, Pages 730-750

  Maue, Robert A ^a   Burgess, Robert W ^b   Wang, Bing ^b   Wooley, Christine M ^b   Seburn, Kevin L ^b   Vanier, Marie T ^c   Rogers, Maximillian A ^a   Chang, Catherine C ^a   Chang, Ta Yuan ^a   Harris, Brent T ^a   Graber, David J ^a   Penatti, Carlos A A ^a   Porter, Donna M ^a   Szwergold, Benjamin S ^a   Henderson, Leslie P ^a   Totenhagen, John W ^d   Trouard, Theodore P ^d   Borbon, Ivan A ^d   Erickson, Robert P ^d  

^a DARTMOUTH MEDICAL SCHOOL   (United States)

^b JACKSON LABORATORY   (United States)

^c UNIVERSITÉ LYON 1   (France)

^d UNIVERSITY OF ARIZONA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYSTEINE; GANGLIOSIDE; GLUCOSYLCERAMIDE; GLYCINE; GLYCOLIPID; LACTOSYLCERAMIDE; MESSENGER RNA; NPC1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ALLELISM; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASTROCYTE; AUDITORY STIMULATION; BASE PAIRING; BODY WEIGHT; BRAIN CORTEX; CEREBELLUM; CHOLESTEROL METABOLISM; CONTROLLED STUDY; DEMYELINATION; DISEASE COURSE; DISEASE SEVERITY; ENDOPLASMIC RETICULUM STRESS; FEMALE; GAIT; GENE INSERTION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; GLIA; HIPPOCAMPUS; HISTOPATHOLOGY; HOMOZYGOTE; LIFESPAN; LIPID STORAGE; LIVER HISTOLOGY; LOCOMOTION; LUNG; MACROPHAGE; MALE; MICROGLIA; MOTOR ACTIVITY; MOUSE; MUTATIONAL ANALYSIS; MYELINATION; NERVE DEGENERATION; NIEMANN PICK DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NULL ALLELE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN STRUCTURE; PURKINJE CELL; SPLEEN; SPLEEN WEIGHT; STARTLE REFLEX; UPREGULATION;

AGE OF ONSET; ALLELES; ANIMALS; ASTROCYTES; BRAIN; CARRIER PROTEINS; CHOLESTEROL; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM STRESS; GANGLIOSIDES; HOMOZYGOTE; HUMANS; LIPID METABOLISM; LUNG; MACROPHAGES; MEMBRANE GLYCOPROTEINS; MICE; MICROGLIA; MYELIN SHEATH; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; POINT MUTATION; PROTEOSTASIS DEFICIENCIES; PURKINJE CELLS; RNA, MESSENGER; STARTLE REACTION; SURVIVAL RATE;

MUS;

EID: 84863022173     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr505     Document Type: Article

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