A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)

Journal of Inherited Metabolic Disease

Volumn 23, Issue 1, 2000, Pages 63-76

  Wrobe, D ^a   Henseler, M ^b   Huettler, S ^a   Pascual Pascual, S I ^c   Chabas, A ^d   Sandhoff, K ^a  

^a UNIVERSITY OF BONN   (Germany)

^b GOETHE UNIVERSITY   (Germany)

^c HOSPITAL INFANTIL LA PAZ   (Spain)

^d Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; CARBOHYDRATE; DNA; HISTIDINE; MESSENGER RNA; MUTANT PROTEIN; PROTEIN PRECURSOR; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOLIPID ACTIVATOR PROTEIN B; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; HUMAN; HUMAN CELL; IMMUNOCHEMISTRY; INTRACELLULAR TRANSPORT; METACHROMATIC LEUKODYSTROPHY; NORMAL HUMAN; POINT MUTATION; PRESCHOOL CHILD; PROTEIN DEFICIENCY; PROTEIN GLYCOSYLATION; PROTEIN STABILITY; RNA ANALYSIS; STRUCTURE ACTIVITY RELATION;

CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MUTATION; SAPOSINS; SPHINGOLIPID ACTIVATOR PROTEINS; SULFOGLYCOSPHINGOLIPIDS;

EID: 0033971433     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005603014401     Document Type: Article

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