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Volumn 26, Issue 7, 2011, Pages 1484-1493

The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice

Author keywords

Animal Model; Bone; Osteoclast; Osteopetrosis; Rodent

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CASPASE 3; ETHYLNITROSOUREA; OSTEOCLAST DIFFERENTIATION FACTOR; PROTEIN BCL 2; PROTEIN SUBUNIT; PROTON PUMP;

EID: 79959497079     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.355     Document Type: Article
Times cited : (33)

References (48)
  • 1
    • 0034284970 scopus 로고    scopus 로고
    • Bone resorption by osteoclasts
    • Teitelbaum SL,. Bone resorption by osteoclasts. Science. 2000; 289: 1504-1508.
    • (2000) Science , vol.289 , pp. 1504-1508
    • Teitelbaum, S.L.1
  • 2
    • 0024461376 scopus 로고
    • Osteoclastic bone resorption by a polarized vacuolar proton pump
    • Blair HC, Teitelbaum SL, Ghiselli R, Gluck S,. Osteoclastic bone resorption by a polarized vacuolar proton pump. Science. 1989; 245: 855-857. (Pubitemid 19223662)
    • (1989) Science , vol.245 , Issue.4920 , pp. 855-857
    • Blair, H.C.1    Teitelbaum, S.L.2    Ghiselli, R.3    Gluck, S.4
  • 5
    • 58049100952 scopus 로고    scopus 로고
    • Advances in osteoclast biology resulting from the study of osteopetrotic mutations
    • Segovia-Silvestre T, Neutzsky-Wulff AV, Sorensen MG, et al. Advances in osteoclast biology resulting from the study of osteopetrotic mutations. Hum Genet. 2009; 124: 561-577.
    • (2009) Hum Genet. , vol.124 , pp. 561-577
    • Segovia-Silvestre, T.1    Neutzsky-Wulff, A.V.2    Sorensen, M.G.3
  • 6
    • 27544493733 scopus 로고    scopus 로고
    • Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo
    • Henriksen GJ, Hoegh-Andersen P, Jemtland R, et al. Osteoclasts from patients with Autosomal Dominant Osteopetrosis type I (ADOI) caused by T253I mutation in LRP5 are normal in vitro, but have decreased resorption capacity in vivo. Am J Pathol. 2005; 167: 1341-1348. (Pubitemid 41541420)
    • (2005) American Journal of Pathology , vol.167 , Issue.5 , pp. 1341-1348
    • Henriksen, K.1    Gram, J.2    Hoegh-Andersen, P.3    Jemtland, R.4    Ueland, T.5    Dziegiel, M.H.6    Schaller, S.7    Bollerslev, J.8    Karsdal, M.A.9
  • 7
    • 37349108189 scopus 로고    scopus 로고
    • Genetics, pathogenesis and complications of osteopetrosis
    • DOI 10.1016/j.bone.2007.08.029, PII S8756328207006278
    • Del Fattore A, Cappariello A, Teti A,. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008; 42: 19-29. (Pubitemid 350297169)
    • (2008) Bone , vol.42 , Issue.1 , pp. 19-29
    • Del Fattore, A.1    Cappariello, A.2    Teti, A.3
  • 16
    • 1642369055 scopus 로고    scopus 로고
    • Distal renal tubular acidosis
    • DOI 10.1097/00008480-200404000-00014
    • Nicoletta JA, Schwartz GJ,. Distal renal tubular acidosis. Curr Opin Pediatr. 2004; 16: 194-198. (Pubitemid 38368358)
    • (2004) Current Opinion in Pediatrics , vol.16 , Issue.2 , pp. 194-198
    • Nicoletta, J.A.1    Schwartz, G.J.2
  • 17
    • 1542677106 scopus 로고    scopus 로고
    • The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (>or=10 nuclei) and small (
    • Manolson MF, Yu H, Chen W, et al. The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (>or=10 nuclei) and small (
    • (2003) J Biol Chem. , vol.278 , pp. 49271-49278
    • Manolson, M.F.1    Yu, H.2    Chen, W.3
  • 18
    • 58149086876 scopus 로고    scopus 로고
    • Characterization of a novel Alu-Alu recombination mediated genomic deletion in the TCIRG1 gene in five osteopetrotic families
    • Pangrazio A, Caldana ME, Sobacchi C, et al. Characterization of a novel Alu-Alu recombination mediated genomic deletion in the TCIRG1 gene in five osteopetrotic families. J Bone Miner Res. 2009; 24: 162-167.
    • (2009) J Bone Miner Res. , vol.24 , pp. 162-167
    • Pangrazio, A.1    Caldana, M.E.2    Sobacchi, C.3
  • 19
    • 0021926278 scopus 로고
    • Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse
    • Marks SCJ, Seifert MF, Lane PW,. Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. J Hered. 1985; 76: 171-176. (Pubitemid 15116764)
    • (1985) Journal of Heredity , vol.76 , Issue.3 , pp. 171-176
    • Marks Jr., S.C.1    Seifert, M.F.2    Lane, P.W.3
  • 20
    • 0032748995 scopus 로고    scopus 로고
    • Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification
    • Li YP, Chen W, Liang Y, Li E, Stashenko P,. Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat Genet. 1999; 23: 447-451.
    • (1999) Nat Genet. , vol.23 , pp. 447-451
    • Li, Y.P.1    Chen, W.2    Liang, Y.3    Li, E.4    Stashenko, P.5
  • 21
    • 0034124307 scopus 로고    scopus 로고
    • Optimal N-ethyl-N-nitrosourea (ENU) doses for inbred mouse strains
    • DOI 10.1002/(SICI)1526-968X(200004)26:4<230::AID-GENE20>3.0.CO;2-S
    • Weber JS, Salinger A, Justice MJ,. Optimal N-ethyl-N-nitrosourea (ENU) doses for inbred mouse strains. Genesis. 2000; 26: 230-233. (Pubitemid 30305382)
    • (2000) Genesis , vol.26 , Issue.4 , pp. 230-233
    • Weber, J.S.1    Salinger, A.2    Justice, M.J.3
  • 23
    • 0017759496 scopus 로고
    • A reliable method of preparing undecalcified human bone biopsies for electron microscopic investigation
    • Schulz A,. A reliable method of preparing undecalcified human bone biopsies for electron microscope investigation. Microsc Acta. 1977; 80: 7-18. (Pubitemid 8220159)
    • (1977) Microscopica Acta , vol.80 , Issue.1 , pp. 7-18
    • Schulz, A.1
  • 24
    • 0033567835 scopus 로고    scopus 로고
    • Kinetics of osteoprogenitor proliferation and osteoblast differentiation in vitro
    • DOI 10.1002/(SICI)1097-4644(19990915)74:4<616::AID-JCB11>3.0.CO;2-Q
    • Malaval L, Liu F, Roche P, Aubin JE,. Kinetics of osteoprogenitor proliferation and osteoblast differentiation in vitro. J Cell Biochem. 1999; 74: 616-627. (Pubitemid 29372501)
    • (1999) Journal of Cellular Biochemistry , vol.74 , Issue.4 , pp. 616-627
    • Malaval, L.1    Liu, F.2    Roche, P.3    Aubin, J.E.4
  • 26
    • 0028072609 scopus 로고
    • The catalytic cycle of the vacuolar H(+)-ATPase. Comparison of proton transport in kidney- and osteoclast-derived vesicles
    • David P, Baron R,. The catalytic cycle of the vacuolar H(+)-ATPase. Comparison of proton transport in kidney- and osteoclast-derived vesicles. J Biol Chem. 1994; 269: 30158-30163.
    • (1994) J Biol Chem. , vol.269 , pp. 30158-30163
    • David, P.1    Baron, R.2
  • 30
    • 50349103459 scopus 로고    scopus 로고
    • Function and subunit interactions of the N-terminal domain of subunit a (Vph1p) of the yeast V-ATPase
    • Qi J, Forgac M,. Function and subunit interactions of the N-terminal domain of subunit a (Vph1p) of the yeast V-ATPase. J Biol Chem. 2008; 283: 19274-19282.
    • (2008) J Biol Chem. , vol.283 , pp. 19274-19282
    • Qi, J.1    Forgac, M.2
  • 31
    • 0035955678 scopus 로고    scopus 로고
    • A4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a
    • Oka T, Murata Y, Namba M, et al. a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a. J Biol Chem. 2001; 276: 40050-40054.
    • (2001) J Biol Chem. , vol.276 , pp. 40050-40054
    • Oka, T.1    Murata, Y.2    Namba, M.3
  • 32
    • 0026740979 scopus 로고
    • Lack of bone resorption in osteosclerotic (oc/oc) mice is due to a defect in osteoclast progenitors rather than the local microenvironment provided by osteoblastic cells
    • Udagawa N, Sasaki T, Akatsu T, et al. Lack of bone resorption in osteosclerotic (oc/oc) mice is due to a defect in osteoclast progenitors rather than the local microenvironment provided by osteoblastic cells. Biochem Biophys Res Comm. 1992; 184: 67-72.
    • (1992) Biochem Biophys Res Comm. , vol.184 , pp. 67-72
    • Udagawa, N.1    Sasaki, T.2    Akatsu, T.3
  • 37
    • 58149398636 scopus 로고    scopus 로고
    • Bone marrow microenvironment controls the in vivo differentiation of murine dendritic cells into osteoclasts
    • Wakkach A, Mansour A, Dacquin R, et al. Bone marrow microenvironment controls the in vivo differentiation of murine dendritic cells into osteoclasts. Blood. 2008; 112: 5074-5083.
    • (2008) Blood. , vol.112 , pp. 5074-5083
    • Wakkach, A.1    Mansour, A.2    Dacquin, R.3
  • 38
    • 4444327642 scopus 로고    scopus 로고
    • Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis
    • DOI 10.1038/sj.leu.2403449
    • Blin-Wakkach C, Wakkach A, Sexton PM, Rochet N, Carle GF,. Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. Leukemia. 2004; 19: 1505-1511. (Pubitemid 39264073)
    • (2004) Leukemia , vol.18 , Issue.9 , pp. 1505-1511
    • Blin-Wakkach, C.1    Wakkach, A.2    Sexton, P.M.3    Rochet, N.4    Carle, G.F.5
  • 40
    • 0034718609 scopus 로고    scopus 로고
    • Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene
    • Kim N, Odgren PR, Kim DK, Marks SCJ, Choi Y,. Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene. Proc Natl Acad Sci U S A. 2000; 26: 10905-10910.
    • (2000) Proc Natl Acad Sci U S A. , vol.26 , pp. 10905-10910
    • Kim, N.1    Odgren, P.R.2    Kim, D.K.3    Marks, S.C.J.4    Choi, Y.5
  • 41
    • 33645789497 scopus 로고    scopus 로고
    • Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: Implications for diagnosis and treatment
    • Del Fattore A, Peruzzi B, Rucci N, et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet. 2006; 43: 315-325.
    • (2006) J Med Genet. , vol.43 , pp. 315-325
    • Del Fattore, A.1    Peruzzi, B.2    Rucci, N.3
  • 42
    • 0035940474 scopus 로고    scopus 로고
    • Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation
    • Kawasaki-Nishi S, Nishi T, Forgac M,. Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation. Proc Natl Acad Sci U S A. 2001; 98: 12397-1402.
    • (2001) Proc Natl Acad Sci U S A. , vol.98 , pp. 12397-11402
    • Kawasaki-Nishi, S.1    Nishi, T.2    Forgac, M.3
  • 44
    • 33751511196 scopus 로고    scopus 로고
    • The a3 isoform of V-ATPase regulates insulin secretion from pancreatic β-cells
    • DOI 10.1242/jcs.03234
    • Sun-Wada GH, Toyomura T, Murata Y, Yamamoto A, Futai M, Wada Y,. The a3 isoform of V-ATPase regulates insulin secretion from pancreatic beta-cells. J Cell Sci. 2006; 119: 4531-4540. (Pubitemid 44830652)
    • (2006) Journal of Cell Science , vol.119 , Issue.21 , pp. 4531-4540
    • Sun-wada, G.-H.1    Toyomura, T.2    Murata, Y.3    Yamamoto, A.4    Futai, M.5    Wada, Y.6
  • 45
    • 0347382415 scopus 로고    scopus 로고
    • +ATPase a subunit to nerve terminals where it associates with both synaptic vesicles and the presynaptic plasma membrane
    • DOI 10.1242/jcs.00791
    • Morel N, Dedieu JC, Philippe JM,. Specific sorting of the a1 isoform of the V-H+ATPase a subunit to nerve terminals where it associates with both synaptic vesicles and the resynaptic plasma membrane. J Cell Sci. 2003; 116: 4751-4762. (Pubitemid 37541218)
    • (2003) Journal of Cell Science , vol.116 , Issue.23 , pp. 4751-4762
    • Morel, N.1    Dedieu, J.-C.2    Philippe, J.-M.3
  • 46
    • 0035252348 scopus 로고    scopus 로고
    • Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion
    • DOI 10.1038/35054500
    • Peters C, Bayer M, Buehler S, Andersen JS, Mann M, Mayer A,. Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion. Nature. 2001; 409: 581-588. (Pubitemid 32154803)
    • (2001) Nature , vol.409 , Issue.6820 , pp. 581-588
    • Peters, C.1    Bayer, M.J.2    Buhler, S.3    Andersen, J.S.4    Mann, M.5    Mayer, A.6
  • 47
    • 0035947648 scopus 로고    scopus 로고
    • Intra-endosomal pH-sensitive recruitment of the Arf-nucleotide exchange factor ARNO and Arf6 from cytoplasm to proximal tubules
    • Maranda B, Brown D, Bourgoin S, et al. Intra-endosomal pH-sensitive recruitment of the Arf-nucleotide exchange factor ARNO and Arf6 from cytoplasm to proximal tubules. J Biol Chem. 2001; 25: 18540-18550.
    • (2001) J Biol Chem. , vol.25 , pp. 18540-18550
    • Maranda, B.1    Brown, D.2    Bourgoin, S.3
  • 48
    • 33645152194 scopus 로고    scopus 로고
    • V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway
    • Hurtado-Lorenzo A, Skinner M, El Annan J, et al. V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. Nat Cell Biol. 2006; 8: 124-136.
    • (2006) Nat Cell Biol. , vol.8 , pp. 124-136
    • Hurtado-Lorenzo, A.1    Skinner, M.2    El Annan, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.