NPC1 defect results in abnormal platelet formation and function: Studies in niemann-pick disease type C1 patients and zebrafish

Human Molecular Genetics

Volumn 22, Issue 1, 2013, Pages 61-73

  Louwette, Sophie ^a   Régal, Luc ^b   Wittevrongel, Christine ^a   Thys, Chantal ^a   Vandeweeghde, Gwenny ^a   Decuyper, Elisa ^a   Leemans, Peter ^b   De vos, Rita ^b   Van geet, Chris ^a,b   Jaeken, Jaak ^b   Freson, Kathleen ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CD63 ANTIGEN; CHOLESTEROL; FILIPIN; MYELIN; NIEMANN PICK TYPE C1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; ATAXIA; AXONAL POLYNEUROPATHY; BIOCHEMISTRY; CASE REPORT; CELL DEATH; CELL DIFFERENTIATION; CHILD; CONTROLLED STUDY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ERYTHROCYTE; FASCICULATION; FEMALE; FLOW CYTOMETRY; HEAD CIRCUMFERENCE; HEPATOSPLENOMEGALY; HUMAN; IN VITRO STUDY; KUPFFER CELL; MALE; MEGAKARYOCYTE; MUSCLE ATROPHY; NEUROIMAGING; NIEMANN PICK DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN EXPRESSION; PTOSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKIN FIBROBLAST; STRABISMUS; THROMBOCYTE AGGREGATION; THROMBOCYTE FUNCTION; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; ZEBRA FISH;

ANIMALS; BLOOD PLATELETS; CARRIER PROTEINS; CELL DEATH; CELL DIFFERENTIATION; CHILD; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; NIEMANN-PICK DISEASE, TYPE C; THROMBOCYTOPENIA; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 84871184768     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds401     Document Type: Article

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