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- W2113451302 abstract "ATP8A2 is a P4-ATPase which is highly expressed in the retina, brain, spinal cord and testes. In the retina, ATP8A2 is localized in photoreceptors where it utilizes ATP to transport phosphatidylserine (PS) and phosphatidylethanolamine (PE) from the exoplasmic to the cytoplasmic leaflet of membranes. Although mutations in ATP8A2 have been reported to cause mental retardation in humans and degeneration of spinal motor neurons in mice, the role of ATP8A2 in sensory systems has not been investigated. We have analyzed the retina and cochlea of ATP8A2 deficient mice to determine the role of ATP8A2 in visual and auditory systems. ATP8A2 deficient mice have shortened photoreceptor outer segments, a reduction in photoresponses, and decreased photoreceptor viability. Photoreceptor outer segment ultrastructure and phagocytosis appeared normal, but the PS and PE compositions were altered and the rhodopsin content was decreased. The auditory brainstem response threshold was significantly higher and degeneration of spiral ganglion cells was apparent. Our studies indicate that ATP8A2 plays a crucial role in photoreceptor and spiral ganglion cell function and survival by maintaining phospholipid composition and contributing to vesicle trafficking." @default.
- W2113451302 created "2016-06-24" @default.
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- W2113451302 date "2014-01-01" @default.
- W2113451302 modified "2023-10-11" @default.
- W2113451302 title "Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival" @default.
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- W2113451302 doi "https://doi.org/10.1242/jcs.145052" @default.
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