Action myoclonus-renal failure syndrome: Diagnostic applications of activity-based probes and lipid analysis

Journal of Lipid Research

Volumn 55, Issue 1, 2014, Pages 138-145

  Gaspar, Paulo ^a,b   Kallemeijn, Wouter W ^b   Strijland, Anneke ^b,e   Scheij, Saskia ^b   Van Eijk, Marco ^b,g   Aten, Jan ^c   Overkleeft, Herman S ^d   Balreira, Andrea ^a   Zunke, Friederike ^e   Schwake, Michael ^f   Sá Miranda, Clara ^a,h   Aerts, Johannes M F G ^b  

^a Institute of Molecular and Cell Biology (IBMC)   (France)

^b UNIVERSITY OF PORTO   (Portugal)

^c Erasmus MC Cancer Institute   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e Academic Medical Center ^*  (Netherlands)

^f LEIDEN UNIVERSITY   (Netherlands)

^g UNIVERSITY OF KIEL   (Germany)

^h BIELEFELD UNIVERSITY   (Germany)

Author keywords

Gaucher disease; Glucocerebrosidase; Glucosylsphingosine; LIMP2 SCARB2; Macrophages monocytes; Scavenger receptors; Sphingolipids; Storage diseases

Indexed keywords

CHITOTRIOSIDASE; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; GLUCOSYLSPHINGOSINE; GLYCOSPHINGOLIPID; LIPID; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN 2; MEMBRANE PROTEIN; SPHINGOLIPID; UNCLASSIFIED DRUG;

ACTION MYOCLONUS RENAL FAILURE SYNDROME; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; FIBROBLAST; GAUCHER DISEASE; HUMAN; HUMAN CELL; KIDNEY FAILURE; LEUKOCYTE; LIPID ANALYSIS; LIPID BLOOD LEVEL; LYSOSOME; MACROPHAGE; MOLECULAR PROBE; MOUSE; MYOCLONUS EPILEPSY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

GAUCHER DISEASE; GLUCOCEREBROSIDASE; GLUCOSYLSPHINGOSINE; LIMP2/SCARB2; MACROPHAGES/MONOCYTES; SCAVENGER RECEPTORS; SPHINGOLIPIDS; STORAGE DISEASES;

ANIMALS; CELLS, CULTURED; ENZYME ASSAYS; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; FLUORESCENT DYES; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDES; HUMANS; LEUKOCYTES; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MACROPHAGES; MICE; MYOCLONIC EPILEPSIES, PROGRESSIVE; PSYCHOSINE; RECEPTORS, SCAVENGER;

EID: 84891352709     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M043802     Document Type: Article

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