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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1878070086

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

About this item

Full title

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2017-02, Vol.13 (2), p.e1006481-e1006481

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

ATP6V1H is a component of a large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations of individuals in which short stature and osteoporosis co-segregated with a mutation in ATP6V1H. Since V-ATPases are highly conserved between human and zebrafish, we generated loss-of-function mutants in atp6v1h in zebrafish thr...

Alternative Titles

Full title

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1878070086

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1878070086

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1006481

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