Functional studies of new GLA gene mutations leading to conformational fabry disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1802, Issue 2, 2010, Pages 247-252

  Filoni, C ^a   Caciotti, A ^a   Carraresi, L ^a   Cavicchi, C ^a   Parini, R ^b   Antuzzi, D ^c   Zampetti, A ^c   Feriozzi, S ^d   Poisetti, P ^e   Garman, S C ^f   Guerrini, R ^a   Zammarchi, E ^a   Donati, M A ^a   Morrone, A ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^d BELCOLLE HOSPITAL   (Italy)

^e Hospital of Piacenza   (Italy)

^f UNIVERSITY OF MASSACHUSETTS   (United States)

Author keywords

Galactosidase; 1 Deoxygalactonojirimicin; Chaperone; Fabry disease

Indexed keywords

1 DEOXYGALACTONOJIRIMYCIN; ADENINE; AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; CHAPERONE; CYTOSINE; GUANINE; RAMIPRIL; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL STRAIN COS1; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME REPLACEMENT; ENZYME STRUCTURE; FABRY DISEASE; FEMALE; GENE EXPRESSION PROFILING; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; LYSOSOME STORAGE DISEASE; MALE; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEINURIA; WESTERN BLOTTING; X CHROMOSOME LINKAGE;

ALPHA-GALACTOSIDASE; ANIMALS; CERCOPITHECUS AETHIOPS; CHROMOSOME MAPPING; COS CELLS; DNA; DNA PRIMERS; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR CONFORMATION; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; TRANSFECTION; X CHROMOSOME;

EID: 74149091308     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2009.11.003     Document Type: Article

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