Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018;13:1–19.
Sugita M, Dulaney JT, Moser HW. Ceramidase deficiency in Farber’s disease (Lipogranulomatosis). Science. 1972;178:1100–2.
CAS PubMed Article Google Scholar
Koch J, Gärtner S, Li C, Quintern LE, Bernardo K, Levran O. et al. Molecular cloning and characterization of a full-length complementary DNAencoding human acid ceramidase: Identification of the first molecular lesion causing farber disease. J Biol Chem. 1996;271:33110–5.
CAS PubMed Article Google Scholar
Sands MS. Farber disease: Understanding a fatal childhood disorder and dissecting ceramide biology. EMBO Mol. Med. 2013;5:799–801.
CAS PubMed PubMed Central Article Google Scholar
Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. A cross-sectional quantitative analysis of the natural history of Farber disease: An ultra-orphan condition with rheumatologic and neurological cardinal disease features. Genet. Med. 2018;20:524–30.
Zetterström R. Disseminated Lipogranulomatosis (Farber’s Disease). Acta Paediatr. 1958;47:501–10.
Tanaka T, Takahashi K, Hakozaki H, Kimoto H, Suzuki Y. Farber’s Disease (Disseminated Lipogranulomatosis) - A Pathological, Histochemical and Ultrastructural Study-. Pathol. Int. 1979;29:135–55.
Zarbin MA, Green WR, Moser AB, Tiffany C. Increased Levels of Ceramide in the Retina of a Patient With Farber’s Disease. Arch. Ophthalmol. 1988;106:1163–1163.
CAS PubMed Article Google Scholar
Alamri AS, Alshowaeir DA, AlFaiz AA, Mousawi AI, Mahmoud FH, Alhashim AA. et al. Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. J Neuro-Ophthalmol. 2019;39:391–3.
Alayoubi AM, Wang JCM, Au BCY, Carpentier S, Garcia V, Dworski S, et al. Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol Med. 2013;5:827–42.
CAS PubMed PubMed Central Article Google Scholar
Dworski S, Berger A, Furlonger C, Moreau JM, Yoshimitsu M, Trentadue J, et al. Markedly perturbed hematopoiesis in acid ceramidase deficient mice. Haematologica. 2015;100:e162–e165.
PubMed PubMed Central Article Google Scholar
Yu FPS, Sajdak BS, Sikora J, Salmon AE, Nagree MS, Gurka J, et al. Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. Am J Pathol. 2019;189:320–38.
CAS PubMed PubMed Central Article Google Scholar
Barak A, Goldkorn T, Morse LS. Laser induces apoptosis and ceramide production in human retinal pigment epithelial cells. Investig Ophthalmol Vis Sci. 2005;46:2587–91.
Pettus BJ, Chalfant CE, Hannun YA. Ceramide in apoptosis: An overview and current perspectives. Biochim et Biophys Acta Mol Cell Biol Lipids. 2002;1585:114–25.
Ranty ML, Carpentier S, Cournot M, Rico-Lattes I, Malecaze F, Levade T, et al. Ceramide production associated with retinal apoptosis after retinal detachment. Graefe’s Arch Clin Exp Ophthalmol. 2009;247:215–24.
Lou H, Kang D, Yang Q, Lian C, Zhang C, Li Z, et al. Erythropoietin Protects Retina Against Ceramide 2-Induced Damage in Rat. Curr Mol Med. 2018;17:699–706.
Strettoi E, Gargini C, Sala G, Piano I, Gasco P, Ghidoni R. Inhibition of ceramide biosynthesis preserves photoreceptor structure and function in a mouse model of retinitis pigmentosa. Proc Natl Acad Sci USA 2010;107:18706–11.
CAS PubMed PubMed Central Article Google Scholar
Simón MV, Spalm Prado, Vera FH, Rotstein MS. N. P. Sphingolipids as emerging mediators in retina degeneration. Front Cell Neurosci. 2019;13:246.
PubMed PubMed Central Article CAS Google Scholar
Haddad S, Chen CA, Santangelo SL, Seddon JM. The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date. Surv Ophthalmol. 2006;51:316–63.
He X, Schuchman EH. Ceramide and Ischemia/Reperfusion Injury. J Lipids 2018;2018:1–11.
Sanvicens N, Cotter TG. Ceramide is the key mediator of oxidative stress-induced apoptosis in retinal photoreceptor cells. J Neurochem. 2006;98:1432–44.
CAS PubMed Article Google Scholar
Sugano E, Edwards G, Saha S, Wilmott LA, Grambergs RC, Mondal K, et al. Overexpression of acid ceramidase (ASAH1) protects retinal cells (ARPE19) from oxidative stress. J Lipid Res. 2019;60:30–43.
CAS PubMed Article Google Scholar
Opreanu M, Lydic TA, Reid GE, McSorley KM, Esselman WJ, Busik JV. Inhibition of cytokine signaling in human retinal endothelial cells through downregulation of sphingomyelinases by docosahexaenoic acid. Investig Ophthalmo Vis Sci. 2010;51:3253–63.
Acharya U, Patel S, Koundakjian E, Nagashima K, Han X, Acharya JK. Modulating sphingolipid biosynthetic pathway rescues photoreceptor degeneration. Science. 2003;299:1740–3.
CAS PubMed Article Google Scholar
Fan J, Wu BX, Crosson CE. Suppression of acid sphingomyelinase protects the retina from ischemic injury. Investig Ophthalmol Vis Sci. 2016;57:4476–84.
Stiles M, Qi H, Sun E, Tan J, Porter H, Allegood J, et al. Sphingolipid profile alters in retinal dystrophic P23H-1 rats and systemic FTY720 can delay retinal degeneration. J Lipid Res. 2016;57:818–31.
CAS PubMed PubMed Central Article Google Scholar
Klein R, Klein BEK, Jensen SC, Cruickshanks KJ, Lee KE, Danforth L, et al. Medication use and the 5-year incidence of early age-related maculopathy: The Beaver Dam eye study. Arch Ophthalmol. 2001;119:1354–9.
CAS PubMed Article Google Scholar
He X, Dworski S, Zhu C, DeAngelis V, Solyom A, Medin JA, et al. Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. BBA Clin. 2017;7:85–96.
PubMed PubMed Central Article Google Scholar
Garbade SF, Zielonka M, Mechler K, Kölker S, Hoffmann GF, Staufner C, et al. FDA orphan drug designations for lysosomal storage disorders - A cross-sectional analysis. PLoS One. 2020;15:e0230898.
CAS PubMed PubMed Central Article Google Scholar
Lachmann RH. Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2011;23:588–93.
CAS PubMed Article Google Scholar
Brooks DA, Kakavanos R, Hopwood JJ. Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder. Trend Mol Med. 2003;9:450–3.
Concolino D, Deodato F, Parini R. Enzyme replacement therapy: Efficacy and limitations. Ital J Pediatr. 2018;44:117–26.
Cunha-Vaz J, Bernardes R, Lobo C. Blood-retinal barrier. Eur J Ophthalmol. 2011;21:3–9.
Rastall DPW, Amalfitano A. Recent advances in gene therapy for lysosomal storage disorders. Appl Clin Genet. 2015;8:157–69.
CAS PubMed PubMed Central Google Scholar
Truett GE, Heeger P, Mynatt RL, Truett AA, Walker JA, Warman ML. Preparation of PCR-quality mouse genomic dna with hot sodium hydroxide and tris (HotSHOT). Biotechniques. 2000;29:52–54.
CAS PubMed Article Google Scholar
Reid CA, Lipinski DM. Small and micro-scale recombinant adeno-associated virus production and purification for ocular gene therapy applications. Ret Gene Ther. 2018;1715:19–31.
McCarty DM. Self-complementary AAV vectors; advances and applications. Mol Ther. 2008;16:1648–56.
CAS PubMed Article Google Scholar
Li Y, Benitez BA, Nagree MS, Dearborn JT, Jiang X, Guzman MA, et al. Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. Proc Natl Acad Sci USA 2019;116:20097–103.
CAS PubMed PubMed Central Article Google Scholar
Reid CA, Ertel KJ, Lipinski DM. Improvement of Photoreceptor Targeting via Intravitreal Delivery in Mouse and Human Retina Using Combinatory rAAV2 Capsid Mutant Vectors. Investg Ophthalmol Vis Sci. 2017;58:6429–39.
Piedra J, Ontiveros M, Miravet S, Penalva C, Monfar M, Chillon M. Development of a rapid, robust, and universal PicoGreen-based method to titer adeno-associated vectors. Hum Gene Ther Methods. 2015;26:35–42.
CAS PubMed Article Google Scholar
Zhang H, Sajdak BS, Merriman DK, McCall MA, Carroll J, Lipinski. Daniel M. Electroretinogram of the cone-dominant thirteen-lined ground squirrel during Euthermia and Hibernation in comparison with the rod-dominant Brown Norway rat. Investig Ophthalmol Vis Sci. 2020;61:6–6.
Latendresse JR, Warbrittion AR, Jonassen H, Creasy DM. Fixation of testes and eyes using a modified Davidson’s fluid: Comparison with Bouin’s fluid and conventional Davidson’s fluid. Toxicol Pathol. 2002;30:524–33.
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