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Property "Has-20abstract" (as page type) with input value "Autosomal-2Drecessive-20optic-20neuropathies-20are-20rare-20blinding-20conditions-20related-20to-20retinal-20ganglion-20cell-20(RGC)-20and-20optic-2Dnerve-20degeneration,-20for-20which-20only-20mutations-20in-20-27-27TMEM126A-27-27-20and-20-27-27ACO2-27-27-20are-20known.-20In-20four-20families-20with-20early-2Donset-20recessive-20optic-20neuropathy,-20we-20identified-20mutations-20in-20-27-27RTN4IP1-27-27,-20which-20encodes-20a-20mitochondrial-20ubiquinol-20oxydo-2Dreductase.-20-27-27RTN4IP1-27-27-20is-20a-20partner-20of-20-27-27RTN4-27-27-20(also-20known-20as-20NOGO),-20and-20its-20ortholog-20Rad8-20in-20-27-27C.-20elegans-27-27-20is-20involved-20in-20UV-20light-20response.-20Analysis-20of-20fibroblasts-20from-20affected-20inspaniduals-20with-20a-20-27-27RTN4IP1-27-27-20mutation-20showed-20loss-20of-20the-20altered-20protein,-20a-20deficit-20of-20mitochondrial-20respiratory-20complex-20I-20and-20IV-20activities,-20and-20increased-20susceptibility-20to-20UV-20light.-20Silencing-20of-20RTN4IP1-20altered-20the-20number-20and-20morphogenesis-20of-20mouse-20RGC-20dendrites-20-27-27in-20vitro-27-27-20and-20the-20eye-20size,-20neuro-2Dretinal-20development,-20and-20swimming-20behavior-20in-20zebrafish-20-27-27in-20vivo-27-27.-20Altogether,-20these-20data-20point-20to-20a-20pathophysiological-20mechanism-20responsible-20for-20RGC-20early-20degeneration-20and-20optic-20neuropathy-20and-20linking-20-27-27RTN4IP1-27-27-20functions-20to-20mitochondrial-20physiology,-20response-20to-20UV-20light,-20and-20dendrite-20growth-20during-20eye-20maturation." contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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