Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

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

Volumn 111, Issue 13, 2014, Pages 4934-4939

  Mistry, Pramod K ^a   Liu, Jun ^a   Sun, Li ^b   Chuang, Wei Lien ^b   Yuen, Tony ^b,c   Yang, Ruhua ^a   Lu, Ping ^b   Zhang, Kate ^b   Li, Jianhua ^b   Keutzer, Joan ^b   Stachnik, Agnes ^b   Mennone, Albert ^a   Boyer, James L ^a   Jain, Dhanpat ^a   Brady, Roscoe O ^d   New, Maria I ^b,c   Zaidi, Mone ^b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c SANOFI   (France)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Knockout mice; Macrophage; S1P

Indexed keywords

CERAMIDE; GAMMA INTERFERON; GLUCOCEREBROSIDASE 2; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; GLUCOSYLSPHINGOSINE; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 13; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; INTERLEUKIN 2; INTERLEUKIN 3; INTERLEUKIN 6; INTERLEUKIN 9; KERATINOCYTE DERIVED CHEMOKINE; MACROPHAGE INFLAMMATORY PROTEIN 1BETA; SPHINGOSINE; SPHINGOSINE 1 PHOSPHATE; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOLOGICAL ACTIVITY; BONE MASS; CELL VIABILITY; CONTROLLED STUDY; CYTOKINE STORM; CYTOPENIA; DISEASE ACTIVITY; ENZYME REPLACEMENT; GAUCHER DISEASE; GAUCHER DISEASE TYPE 1; GENE DELETION; GENE MUTATION; GRANULOCYTE; HEPATOSPLENOMEGALY; HUMAN; LIPID BLOOD LEVEL; MOUSE; NONHUMAN; OSSIFICATION; OSTEOBLAST; PHENOTYPE; PRIORITY JOURNAL;

KNOCKOUT MICE; MACROPHAGE; S1P;

ANIMALS; BETA-GLUCOSIDASE; CELL LINE; GAUCHER DISEASE; GENE DELETION; HUMANS; METABOLIC NETWORKS AND PATHWAYS; MICE; MICE, INBRED C57BL; OSTEOBLASTS; PHENOTYPE; SPHINGOLIPIDS; SPHINGOSINE;

EID: 84897520098     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1400768111     Document Type: Article

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