Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease

Journal of Lipid Research

Volumn 42, Issue 7, 2001, Pages 1033-1040

  Zschenker, O ^a   Jung, N ^a   Rethmeier, J ^a   Trautwein, S ^a   Hertel, S ^a   Zeigler, M ^a   Ameis, D ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Cholesterol metabolism; Expression cloning; Lysosome; Site directed mutagenesis

Indexed keywords

ACID LIPASE; POLYPEPTIDE; SIGNAL PEPTIDE;

ARTICLE; CHOLESTEROL METABOLISM; ENZYME ACTIVITY; ENZYME ANALYSIS; ESTERIFICATION; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; HUMAN CELL; LIPID METABOLISM; LIPOPROTEIN BLOOD LEVEL; MOLECULAR CLONING; OPEN READING FRAME; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; WOLMAN DISEASE;

ANIMALS; CHOLESTEROL ESTERS; FETAL DISEASES; FIBROBLASTS; HUMANS; INFANT; LIPASE; LYSOSOMES; MUTATION; PEPTIDES; PROTEIN SORTING SIGNALS; SEQUENCE DELETION; SPODOPTERA; TRIGLYCERIDES; WOLMAN DISEASE;

EID: 0034947754     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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