Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1
Author:
Funder
Department of Biotechnology, Ministry of Science and Technology, India
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-023-04652-3.pdf
Reference11 articles.
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2. Honsho M, Asaoku S, Fukumoto K, Fujiki Y. Topogenesis and homeostasis of fatty acyl-CoA reductase 1. J Biol Chem. 2013;288:34588–98.
3. Honsho M, Asaoku S, Fujiki Y. Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. J Biol Chem. 2010;285:8537–42.
4. Ferdinandusse S, McWalter K, te Brinke H, et al. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021;23:740–50.
5. Buchert R, Tawamie H, Smith C, et al. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014;95:602–10.
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