Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase

Human Molecular Genetics

Volumn 19, Issue 4, 2009, Pages 563-572

  Blanz, Judith ^a   Groth, Johann ^a   Zachos, Christina ^a   Wehling, Christina ^a   Saftig, Paul ^a   Schwake, Michael ^a  

^a UNIVERSITY OF KIEL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN TYPE 2; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; CD36 ANTIGEN; LIGAND; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; SCARB2 PROTEIN, HUMAN; SCARB2 PROTEIN, MOUSE; SCAVENGER RECEPTOR;

ACTION MYOCLONUS RENAL FAILURE SYNDROME; ANIMAL CELL; ARTICLE; BINDING AFFINITY; BINDING SITE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; FRAMESHIFT MUTATION; KIDNEY FAILURE; LIGAND BINDING; LYSOSOME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; PH; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MULTIMERIZATION; ANIMAL; CHEMISTRY; DISEASE MODEL; GENETICS; HUMAN; METABOLISM; MOUSE; MOUSE MUTANT; MUTATION; MYOCLONUS EPILEPSY; PROTEIN BINDING; PROTEIN TERTIARY STRUCTURE;

ANIMALS; ANTIGENS, CD36; DISEASE MODELS, ANIMAL; GLUCOSYLCERAMIDASE; HUMANS; LIGANDS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MICE; MICE, KNOCKOUT; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, SCAVENGER;

EID: 77950360086     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp523     Document Type: Article

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