Therapy of Fabry disease with pharmacological chaperones: From in silico predictions to in vitro tests

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Andreotti, Giuseppina ^a   Citro, Valentina ^b   De Crescenzo, Agostina ^c   Orlando, Pierangelo ^d   Cammisa, Marco ^e,f   Correra, Antonella ^e,f   Cubellis, Maria Vittoria ^e,f  

^a CNR   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d INSTITUTE OF PROTEIN BIOCHEMISTRY   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; MIGALASTAT; 1 DEOXYNOJIRIMYCIN; CHAPERONE; LYSOZYME;

ANIMAL CELL; ARTICLE; COMPUTER MODEL; DRUG MECHANISM; FABRY DISEASE; GENE MUTATION; GENOTYPE; IN VITRO STUDY; NONHUMAN; PREDICTION; WESTERN BLOTTING; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; CHEMICAL STRUCTURE; DRUG EFFECT; ENZYME ACTIVE SITE; ENZYMOLOGY; EVALUATION; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; SITE DIRECTED MUTAGENESIS;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; ANIMALS; BASE SEQUENCE; CATALYTIC DOMAIN; CERCOPITHECUS AETHIOPS; COS CELLS; FABRY DISEASE; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MURAMIDASE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PREDICTIVE VALUE OF TESTS;

EID: 80054067102     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-66     Document Type: Article

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