rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
https://www.nature.com/articles/s41434-022-00359-w.pdf
Reference68 articles.
1. Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018;13:1–19.
2. Sugita M, Dulaney JT, Moser HW. Ceramidase deficiency in Farber’s disease (Lipogranulomatosis). Science. 1972;178:1100–2.
3. 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.
4. Sands MS. Farber disease: Understanding a fatal childhood disorder and dissecting ceramide biology. EMBO Mol. Med. 2013;5:799–801.
5. 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.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
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2. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions;Biomolecules;2023-02-01
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