A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF

Human Molecular Genetics

Volumn 21, Issue 4, 2012, Pages 784-798

  Douni, Eleni ^a,b   Rinotas, Vagelis ^a   Makrinou, Eleni ^a   Zwerina, Jochen ^c   Penninger, Josef M ^d   Eliopoulos, Elias ^b   Schett, Georg ^c   Kollias, George ^a  

^a BIOMEDICAL SCIENCES RESEARCH CENTER ALEXANDER FLEMING   (Greece)

^b AGRICULTURAL UNIVERSITY OF ATHENS   (Greece)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d INSTITUTE OF MOLECULAR BIOTECHNOLOGY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTATHIONE TRANSFERASE; GLYCINE; MONOMER; OSTEOCLAST DIFFERENTIATION FACTOR; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; RECOMBINANT OSTEOCLAST DIFFERENTIATION FACTOR; RECOMBINANT PROTEIN; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OSTEOPETROSIS; CODON; CONTROLLED STUDY; CRYSTAL STRUCTURE; EX VIVO STUDY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HYDROPHOBICITY; IN VITRO STUDY; IN VIVO STUDY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OSTEOCLAST; OSTEOCLASTOGENESIS; OSTEOPOROSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; RECEPTOR BINDING; WILD TYPE;

AMINO ACID SUBSTITUTION; ANIMALS; DISEASE MODELS, ANIMAL; ETHYLNITROSOUREA; GENES, DOMINANT; MICE; MUTATION, MISSENSE; OSTEOCLASTS; OSTEOPETROSIS; POINT MUTATION; PROTEIN BINDING; PROTEIN MULTIMERIZATION; RANK LIGAND; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B; TUMOR NECROSIS FACTOR-ALPHA;

MUS;

EID: 84856321770     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr510     Document Type: Article

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