ArticlePloS one2010
Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- ModelingJournal of cellular immunology · 2025Article
- Uncovering Novel Drugs that Restore Vision Using Orthogonal Pooling in Zebrafish.Advances in experimental medicine and biology · 2025Article
- Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.International journal of molecular sciences · 2023Review
- Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.Frontiers in molecular neuroscience · 2023Review
- Ganglion cell inner plexiform layer thickness measured by optical coherence tomography to predict visual outcome in chiasmal compression.Scientific reports · 2022Article
- The HAmerican journal of physiology. Cell physiology · 2021Review
- Selective Histone Deacetylase 6 Inhibitors Restore Cone Photoreceptor Vision or Outer Segment Morphology in Zebrafish and Mouse Models of Retinal Blindness.Frontiers in cell and developmental biology · 2020Article
- Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.Ageing research reviews · 2016Review
- Extra-renal locations of the a4 subunit of H(+)ATPase.BMC cell biology · 2016Article
- A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.BMC medical genetics · 2015Article
- Production and physiological effects of hydrogen sulfide.Antioxidants & redox signaling · 2014Article
- Atp6ap2/(pro)renin receptor interacts with Par3 as a cell polarity determinant required for laminar formation during retinal development in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Hydrogen sulfide protects the retina from light-induced degeneration by the modulation of Ca2+ influx.The Journal of biological chemistry · 2011Article
- Vacuolar H(+)-ATPase subunits Voa1 and Voa2 cooperatively regulate secretory vesicle acidification, transmitter uptake, and storage.Molecular biology of the cell · 2011Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVacuolar-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 phenotype of mice deficient in Tcirg1 function. METHODOLOGY/PRINCIPAL
findingsX-ray microtomography showed narrowed foramina in the skull, suggesting that optic nerve compression occurred in the a3-deficient (Tcirg1-/-) mice. The retina of the mutant mice had normal architecture, but the number of apoptotic cells was increased at 2-3 wks after birth. In the ocular system, the a3 subunit accumulated in the choriocapillary meshwork in uveal tissues. Two other subunit isoforms a1 and a2 accumulated in the retinal photoreceptor layer. We found that the a4 subunit, whose expression has previously been shown to be restricted to several transporting epithelia, was enriched in pigmented epithelial cells of the retina and ciliary bodies. The expression of a4 in the uveal tissue was below the level of detection in wild-type mice, but it was increased in the mutant choriocapillary meshwork, suggesting that compensation may have occurred among the a subunit isoforms in the mutant tissues.
conclusionsOur findings suggest that a similar etiology of visual impairment is involved in both humans and mice; thus, a3-deficient mice may provide a suitable model for clinical and diagnostic purposes in cases of ARO.
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