Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Yildiz, Yildiz ^a,b   Hoffmann, Per ^a,c   Vom Dahl, Stefan ^d   Breiden, Bernadette ^c   Sandhoff, Roger ^e,f   Niederau, Claus ^g   Horwitz, Mia ^h   Karlsson, Stefan ⁱ   Filocamo, Mirella ^j   Elstein, Deborah ^k   Beck, Michael ^l   Sandhoff, Konrad ^c   Mengel, Eugen ^l   Gonzalez, Maria C ^a   Nöthen, Markus M ^a,c   Sidransky, Ellen ^m   Zimran, Ari ^k   Mattheisen, Manuel ^c,n  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF BONN   (Germany)

^d St Franziskus Hospital Koln   (Germany)

^e GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^f University for Applied Sciences   (Germany)

^g St Josef Hospital Oberhausen   (Germany)

^h TEL AVIV UNIVERSITY   (Israel)

ⁱ LUND UNIVERSITY   (Sweden)

^j G GASLINI INSTITUTE   (Italy)

^k SHAARE ZEDEK MEDICAL CENTER   (Israel)

^l JOHANNES GUTENBERG UNIVERSITY   (Germany)

^m NATIONAL INSTITUTES OF HEALTH   (United States)

ⁿ AARHUS UNIVERSITY   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDASE 2; GLUCOSYLCERAMIDE; GLYCOLIPID; MESSENGER RNA; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN LEVEL; CONTROLLED STUDY; DISEASE SEVERITY; FIBROBLAST; GAUCHER DISEASE; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; MASS SPECTROMETRY; MOUSE; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLEEN; WILD TYPE;

ANIMALS; CELLS, CULTURED; FIBROBLASTS; GAUCHER DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; MICE; MICE, KNOCKOUT; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84884538436     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-151     Document Type: Article

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