New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the β-galactosidase/neuraminidase complex and the EBP-receptor

Molecular Genetics and Metabolism

Volumn 82, Issue 1, 2004, Pages 48-55

  Malvagia, Sabrina ^a   Morrone, Amelia ^a   Caciotti, Anna ^a   Bardelli, Tiziana ^a   d'Azzo, Alessandra ^b   Ancora, Gina ^c   Zammarchi, Enrico ^a   Donati, Maria Alice ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Hydrops fetalis; Lysosomal storage disease; PPBG gene; PPCA; Protective protein cathepsin A

Indexed keywords

BETA GALACTOSIDASE; BINDING PROTEIN; CARBOXYPEPTIDASE C; COMPLEMENTARY DNA; ELASTIN BINDING PROTEIN RECEPTOR; GENOMIC DNA; HYDROLASE; RECEPTOR; SIALIDASE; UNCLASSIFIED DRUG;

ARTICLE; BIOCHEMISTRY; CODON; CONTROLLED STUDY; FEMALE; FETUS; FETUS HYDROPS; FIBROBLAST; GALACTOSIALIDOSIS; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; LYSOSOME; LYSOSOME STORAGE DISEASE; MALE; NEWBORN; PPBG GENE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; PROTEIN DEGRADATION; PROTEIN DEPLETION; RECURRENT DISEASE; WESTERN BLOTTING;

BETA-GALACTOSIDASE; CARBOXYPEPTIDASE C; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; FIBRONECTINS; HUMANS; IMMUNOCHEMISTRY; INFANT, NEWBORN; ITALY; LYSOSOMAL STORAGE DISEASES; MUTATION; NEURAMINIDASE; POLYMORPHISM, GENETIC; POPULATION; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA; TROPOELASTIN;

HYDROPS;

EID: 1942425113     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.02.007     Document Type: Article

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