A new heterozygous mutation (R714C) of the osteopetrosis gene, Pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts

Journal of Bone and Mineral Research

Volumn 23, Issue 3, 2008, Pages 380-391

  Del Fattore, Andrea ^a   Fornari, Rachele ^b   Van Wesenbeeck, Liesbeth ^c   De Freitas, Fenna ^c   Timmermans, Jean Pierre ^d   Peruzzi, Barbara ^a   Cappariello, Alfredo ^e   Rucci, Nadia ^a   Spera, Giovanni ^b   Helfrich, Miep H ^f   Van Hul, Wim ^c   Migliaccio, Silvia ^b   Teti, Anna ^a,g  

^a UNIVERSITY OF L'AQUILA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITY OF ABERDEEN   (United Kingdom)

^g UNIVERSITY OF L'AQUILA   (Italy)

Author keywords

Bone resorption; Osteoclast; Osteopetrosis; Osteoporosis; PLEKHM1 gene; TRACP

Indexed keywords

ACIDIFICATION; ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; BONE CELL; CASE REPORT; CELL ACTIVITY; CELL FUNCTION; CELL STRUCTURE; CLINICAL EVALUATION; DNA SEQUENCE; EXOCYTOSIS; FEMALE; GENE; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; OSTEOBLAST; OSTEOCLAST; OSTEOPENIA; PLECKSTRIN HOMOLOG DOMAIN CONTAINING FAMILY M (WITH RUN DOMAIN) MEMBER 1 GENE; PROTEIN SECRETION; VESICULAR ACIDIFICATION;

ACID PHOSPHATASE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AMINO ACID SUBSTITUTION; CELL COMMUNICATION; CELL LINE; DNA MUTATIONAL ANALYSIS; ENDOSOMES; EXOCYTOSIS; FEMALE; HETEROZYGOTE; HUMANS; ISOENZYMES; MEMBRANE GLYCOPROTEINS; OSTEOCLASTS; OSTEOPETROSIS; PARATHYROID HORMONE; POINT MUTATION;

EID: 39749179636     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.071107     Document Type: Article

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