Structural bases of Wolman disease and cholesteryl ester storage disease

Molecular Genetics and Metabolism

Volumn 105, Issue 2, 2012, Pages 244-248

  Saito, Seiji ^a   Ohno, Kazuki ^b   Suzuki, Toshihiro ^c   Sakuraba, Hitoshi ^c  

^a HOKKAIDO INFORMATION UNIVERSITY   (Japan)

^b NPO for the Promotion of Research on Intellectual Property Tokyo   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

Cholesteryl ester storage disease; Lysosomal acid lipase; Structure; Wolman disease

Indexed keywords

ACID LIPASE; AMINO ACID; ASPARTIC ACID; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; LYSOSOMAL ACID LIPASE; PHENYLALANINE; PROLINE; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHOLESTEROL ESTER STORAGE DISEASE; COMPUTER PROGRAM; CONFORMATIONAL TRANSITION; DISEASE SEVERITY; ENZYME ACTIVE SITE; ENZYME STRUCTURE; GENETIC ASSOCIATION; HYDROGEN BOND; HYDROPHOBICITY; MISSENSE MUTATION; MOLECULAR MODEL; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; STRUCTURE ANALYSIS; WILD TYPE; WOLMAN DISEASE;

CHOLESTEROL ESTER STORAGE DISEASE; HUMANS; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; SOFTWARE; STEROL ESTERASE; STRUCTURE-ACTIVITY RELATIONSHIP; WOLMAN DISEASE;

EID: 84856107415     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.11.004     Document Type: Article

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