Prediction of the responsiveness to pharmacological chaperones: Lysosomal human alpha-galactosidase, a case of study

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Andreotti, Giuseppina ^a   Guarracino, Mario R ^b   Cammisa, Marco ^c,d   Correra, Antonella ^c,d   Cubellis, Maria Vittoria ^c,d  

^a CNR Consiglio Nazionale delle Ricerche   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; CHAPERONE; 1 DEOXYNOJIRIMYCIN;

ARTICLE; ENZYME ACTIVITY; ENZYME STRUCTURE; FABRY DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; LYSOSOME; MISSENSE MUTATION; PREDICTION; THERMODYNAMICS; THERMOSTABILITY; CHEMICAL STRUCTURE; CHEMISTRY; COMPUTER PROGRAM; ENZYME ACTIVE SITE; ENZYMOLOGY; GENETICS; METABOLISM; MUTATION; PREDICTIVE VALUE; STRUCTURE ACTIVITY RELATION; TREATMENT OUTCOME;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; CATALYTIC DOMAIN; FABRY DISEASE; HUMANS; LYSOSOMES; MODELS, MOLECULAR; MOLECULAR CHAPERONES; MUTATION; PREDICTIVE VALUE OF TESTS; SOFTWARE; STRUCTURE-ACTIVITY RELATIONSHIP; TREATMENT OUTCOME;

EID: 78649755176     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-36     Document Type: Article

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