Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity.

Human Molecular Genetics
Céline JaillardThierry Léveillard

Abstract

The rod-derived cone viability factors, RdCVF and RdCVF2, have potential therapeutical interests for the treatment of inherited photoreceptor degenerations. In the mouse lacking Nxnl2, the gene encoding RdCVF2, the progressive decline of the visual performance of the cones in parallel with their degeneration, arises due to the loss of trophic support from RdCVF2. In contrary, the progressive loss of rod visual function of the Nxnl2-/- mouse results from a decrease in outer segment length, mediated by a cell autonomous mechanism involving the putative thioredoxin protein RdCVF2L, the second spliced product of the Nxnl2 gene. This novel signaling mechanism extends to olfaction as shown by the progressive impairment of olfaction in aged Nxnl2-/- mice and the protection of olfactory neurons by RdCVF2. This study shows that Nxnl2 is a bi-functional gene involved in the maintenance of both the function and the viability of sensory neurons.

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Citations

Apr 12, 2013·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·José-Alain SahelSaddek Mohand-Said
Jun 21, 2014·Visual Neuroscience·G Jane FarrarArpad Palfi
Jan 18, 2015·Free Radical Biology & Medicine·G ElachouriT Léveillard
Aug 21, 2016·Cellular and Molecular Life Sciences : CMLS·Thierry Léveillard, José-Alain Sahel
Mar 4, 2020·International Journal of Molecular Sciences·Emmanuelle ClérinThierry Léveillard
May 31, 2018·Investigative Ophthalmology & Visual Science·Ander AnasagastiJavier Ruiz-Ederra
May 1, 2013·Asia-Pacific Journal of Ophthalmology·Benjamin T Whigham, R Rand Allingham

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