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Article

Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit.

PloS one - 10 Aug 2010

Kawamura Nobuyuki, Tabata Hiroyuki, Sun-Wada Ge-Hong, Wada Yoh

Abstract excerpt

BACKGROUND: Vacuolar-type proton transporting ATPase (V-ATPase) is involved in the proper development of visual function. Mutations in the Tcirg1 (also known as Atp6V0a3) locus, which encodes the a3 subunit of V-ATPase, cause severe autosomal recessive osteopetrosis (ARO) in humans. ARO is often associated with impaired vision most likely because of nerve compression at the optic canal. We examined the ocular...

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Identifiers

PMID: 20711468
DOI: 10.1371/journal.pone.0012086
PMCID: PMC2919411

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