Molecular analysis of ARSA and PSAP genes in twenty-one italian patients with metachromatic leukodystrophy: Identification and functional characterization of 11 novel ARSA alleles

Human Mutation

Volumn 29, Issue 11, 2008, Pages

  Grossi, Serena ^a   Regis, Stefano ^a   Rosano, Camillo ^b   Corsolini, Fabio ^a   Uziel, Graziella ^c   Sessa, Maria ^d   Di Rocco, Maja ^a   Parenti, Giancarlo ^e   Deodato, Federica ^f   Leuzzi, Vincenzo ^g   Biancheri, Roberta ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

ARSA; Arylsulfatase A; Demyelinating disorder; Functional study; Metachromatic leukodystrophy; MLD; Modelling; Molecular analysis; Saposin B

Indexed keywords

CEREBROSIDE SULFATASE; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOLIPID ACTIVATOR PROTEIN B; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ITALY; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; ALLELES; ANIMALS; CATALYTIC DOMAIN; CERCOPITHECUS AETHIOPS; CEREBROSIDE-SULFATASE; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; ITALY; LEUKODYSTROPHY, METACHROMATIC; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION; PROTEIN STRUCTURE, TERTIARY; SAPOSINS;

EID: 55549101637     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20851     Document Type: Article

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