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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.
Del Fattore, Andrea; Fornari, Rachele; Van Wesenbeeck, Liesbeth; de Freitas, Fenna; Timmermans, Jean-Pierre; Peruzzi, Barbara; Cappariello, Alfredo; Rucci, Nadia; Spera, Giovanni; Helfrich, Miep H; Van Hul, Wim; Migliaccio, Silvia; Teti, Anna.
Affiliation
  • Del Fattore A; Department of Experimental Medicine, University of L'Aquila, Italy.
J Bone Miner Res ; 23(3): 380-91, 2008 Mar.
Article in En | MEDLINE | ID: mdl-17997709
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Database: MEDLINE Main subject: Osteoclasts / Osteopetrosis / Endosomes / Acid Phosphatase / Membrane Glycoproteins / Amino Acid Substitution / Adaptor Proteins, Signal Transducing / Exocytosis / Isoenzymes Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: J Bone Miner Res Journal subject: METABOLISMO / ORTOPEDIA Year: 2008 Type: Article Affiliation country: Italy
Search on Google
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PubMed Links

Database: MEDLINE Main subject: Osteoclasts / Osteopetrosis / Endosomes / Acid Phosphatase / Membrane Glycoproteins / Amino Acid Substitution / Adaptor Proteins, Signal Transducing / Exocytosis / Isoenzymes Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: J Bone Miner Res Journal subject: METABOLISMO / ORTOPEDIA Year: 2008 Type: Article Affiliation country: Italy