A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 33, 2010, Pages 14775-14780

  Abitbol, Marie ^a   Thibaud, Jean Laurent ^b   Olby, Natasha J ^c   Hitte, Christophe ^d   Puech, Jean Philippe ^e   Maurer, Marie ^a   Pilot Storck, Fanny ^a   Hédan, Benoit ^d   Dréano, Stéphan ^d   Brahimi, Sandra ^a   Delattre, Delphine ^f   André, Catherine ^d   Gray, Françoise ^g   Delisle, Françoise ^a   Caillaud, Catherine ^e   Bernex, Florence ^a   Panthier, Jean Jacques ^a   Aubin Houzelstein, Geneviève ^a   Blot, Stéphane ^b   Tiret, Laurent ^a  

^a ECOLE NATIONALE VÉTÉRINAIRE D ALFORT   (France)

^b UNIVERSITÉ PARIS EST   (France)

^c NORTH CAROLINA STATE UNIVERSITY   (United States)

^d UNIVERSITÉ DE RENNES 1   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f Antagene Animal Genetics Laboratory   (France)

^g HÔPITAL LARIBOISIÈRE   (France)

Author keywords

Animal model; Ataxia; Dog; Lysosome; Neurodegenerative

Indexed keywords

ARYLSULFATASE; ARYLSULFATASE G; UNCLASSIFIED DRUG; ABC TRANSPORTER;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 9; DISEASE ASSOCIATION; DOG; ELECTRON MICROSCOPY; ENZYME ACTIVE SITE; EXON; GENE LOCUS; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HAPLOTYPE; LEUKOCYTE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; AGE; ANIMAL; ANIMAL DISEASE; CELL LINE; CEREBELLUM CORTEX; CHROMOSOME; CHROMOSOME MAP; DOG DISEASE; ENZYMOLOGY; FEMALE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; PATHOLOGY; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ANIMALIA; CANIS FAMILIARIS;

AGE FACTORS; ANIMALS; ARYLSULFATASES; ATP-BINDING CASSETTE TRANSPORTERS; CATALYTIC DOMAIN; CELL LINE; CEREBELLAR CORTEX; CHROMOSOME MAPPING; CHROMOSOMES, MAMMALIAN; DOG DISEASES; DOGS; FEMALE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77957069126     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0914206107     Document Type: Article

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