Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and α-hydroxy ceramide accumulation, and altered prosaposin trafficking

Human Molecular Genetics

Volumn 16, Issue 8, 2007, Pages 957-971

  Sun, Ying ^a,b   Witte, David P ^a,b   Zamzow, Matt ^a,b   Ran, Huimin ^a,b   Quinn, Brian ^a,b   Matsuda, Junko ^c   Grabowski, Gregory A ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c TOKAI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE DERIVATIVE; CEREBRONOYLSPHINGOSINE; CYSTEINE; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; LACTOSYLCERAMIDE; PROSAPOSIN; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOLIPID ACTIVATOR PROTEIN B; SPHINGOLIPID ACTIVATOR PROTEIN C; SPHINGOLIPID ACTIVATOR PROTEIN D; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; BRAIN NERVE CELL; BRAIN TISSUE; CELL LOSS; CONTROLLED STUDY; ENZYME INHIBITION; FEMALE; KIDNEY PARENCHYMA; KYPHOSIS; LIFESPAN; LIPID METABOLISM; LYSOSOME STORAGE DISEASE; MALE; MOUSE; MOUSE STRAIN; NEUROLOGIC DISEASE; NEUROPATHOLOGY; NONHUMAN; PARALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEFICIENCY; PROTEIN DEGRADATION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN SECRETION; PROTEIN TRANSPORT; PURKINJE CELL; SKIN FIBROBLAST; SPHINGOLIPID ACTIVATOR PROTEIN C DEFICIENCY; SPHINGOLIPID ACTIVATOR PROTEIN D DEFICIENCY; SPINAL CORD NERVE CELL; SPINAL GANGLION;

ANIMALS; CELLS, CULTURED; CERAMIDES; GAUCHER DISEASE; GENE EXPRESSION REGULATION; GLUCOSYLCERAMIDES; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MODELS, BIOLOGICAL; MYELIN BASIC PROTEINS; PHENOTYPE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN TRANSPORT; SAPOSINS;

MUS;

EID: 34447294548     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm040     Document Type: Article

References (60)

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