The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice (Q45222983)

11 December 2017

title

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

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11 December 2017

Janet Rossant

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11 December 2017

S Lee Adamson

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Jane E Aubin

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Noelle Ochotny

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11 December 2017

Ann M Flenniken

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11 December 2017

Celeste Owen

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11 December 2017

Irina Voronov

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11 December 2017

Ralph A Zirngibl

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11 December 2017

Lucy R Osborne

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11 December 2017

Janet E Henderson

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11 December 2017

Morris F Manolson

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11 December 2017

publication date

1 July 2011

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Journal of Bone and Mineral Research

11 December 2017

published in

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11 December 2017

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11 December 2017

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11 December 2017

page(s)

1484-1493

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Bone resorption by osteoclasts

11 December 2017

cites work

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Osteoclastic bone resorption by a polarized vacuolar proton pump

21 January 2018

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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

21 January 2018

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The mutational spectrum of human malignant autosomal recessive osteopetrosis

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Advances in osteoclast biology resulting from the study of osteopetrotic mutations.

21 January 2018

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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

21 January 2018

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Genetics, pathogenesis and complications of osteopetrosis.

21 January 2018

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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

21 January 2018

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Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis

21 January 2018

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Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

21 January 2018

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Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

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Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

21 January 2018

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

21 January 2018

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

21 January 2018

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Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

21 January 2018

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Distal renal tubular acidosis

21 January 2018

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The a3 Isoform of the 100-kDa V-ATPase Subunit Is Highly but Differentially Expressed in Large (≥10 Nuclei) and Small (≤5 Nuclei) Osteoclasts

21 January 2018

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Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.

21 January 2018

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A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

21 January 2018

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Mesenchymal progenitor self-renewal deficiency leads to age-dependent osteoporosis in Sca-1/Ly-6A null mice.

21 January 2018

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Methods for studying the yeast vacuole

21 January 2018

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Osteoprotegerin: a novel secreted protein involved in the regulation of bone density

21 January 2018

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Function and subunit interactions of the N-terminal domain of subunit a (Vph1p) of the yeast V-ATPase

21 January 2018

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a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a

21 January 2018

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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

21 January 2018

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Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

21 January 2018

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Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II

21 January 2018

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Acidification of the osteoclastic resorption compartment provides insight into the coupling of bone formation to bone resorption.

21 January 2018

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Role of Bcl2 in osteoclastogenesis and PTH anabolic actions in bone

21 January 2018

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RANK is essential for osteoclast and lymph node development

21 January 2018

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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

21 January 2018

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Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

21 January 2018

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Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation

21 January 2018

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The v-ATPase V0 subunit a1 is required for a late step in synaptic vesicle exocytosis in Drosophila.

21 January 2018

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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 presynaptic plasma membrane

21 January 2018

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V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway

21 January 2018

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Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.355

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11 December 2017

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