Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

Molecular Genetics and Metabolism

Volumn 95, Issue 3, 2008, Pages 152-162

  Jones, Iwan ^a   He, Xingxuan ^a   Katouzian, Fourogh ^a   Darroch, Peter I ^b   Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Smith and Nephew Research Centre   (United Kingdom)

Author keywords

Lysosomal storage disease; Mutations; Transgenic mouse

Indexed keywords

BETA GLUCURONIDASE; CHAPERONE; COMPLEMENTARY DNA; GLUCOSE REGULATED PROTEIN 78; PHOSPHOLIPASE A2; PHOSPHOLIPASE C; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOMYELIN PHOSPHODIESTERASE;

AMINO ACID SEQUENCE; ANIMAL MODEL; ARTICLE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME ASSAY; FLUORESCENCE MICROSCOPY; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDROLYSIS; LYSOSOME; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; RETICULOCYTE LYSATE; SKIN FIBROBLAST; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; BRAIN; CELL LINE; CELLS, CULTURED; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICE, TRANSGENIC; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT; SPHINGOMYELIN PHOSPHODIESTERASE;

MUS; MUS MUSCULUS;

EID: 53749099057     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.08.004     Document Type: Article

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