Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids

Human Molecular Genetics

Volumn 5, Issue 6, 1996, Pages 711-725

  Fujita, Nobuya ^a   Suzuki, Kinuko ^a   Vanier, Marie T ^b   Popko, Brian ^a   Maeda, Nobuyo ^a   Klein, Andreas ^c   Henseler, Margarete ^c   Sandhoff, Konrad ^c   Nakayasu, Hiroyuki ^a   Suzuki, Kunihiko ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b CNRS   (France)

^c UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE; GLOBOTRIAOSYLCERAMIDE; GLUCOSYLCERAMIDE; LACTOSYLCERAMIDE; SCHIFF BASE; SPHINGOLIPID; SPHINGOLIPID ACTIVATOR PROTEIN; SULFATIDE;

ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN; CASE REPORT; CATABOLISM; CODON; CONTROLLED STUDY; FETUS; FIBROBLAST CULTURE; GENE DISRUPTION; GENE TARGETING; HUMAN; HUMAN CELL; KIDNEY; LEUKODYSTROPHY; LIPID STORAGE; LIPID TRANSPORT; LIVER; MOUSE; NERVOUS SYSTEM; NONHUMAN; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SERTOLI CELL; SPLEEN;

ANIMALS; GENE DELETION; GLYCOPROTEINS; LEUKODYSTROPHY, METACHROMATIC; MICE; MICE, KNOCKOUT; PHENOTYPE; PROTEIN PRECURSORS; SAPOSINS; SPHINGOLIPID ACTIVATOR PROTEINS; SPHINGOLIPIDS;

EID: 0029982572     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.6.711     Document Type: Article

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