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PubMed (cited) for id: 616107
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26.
Genet Med. 2021.
PMID: 33239752
Free PMC article.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R.
Buchert R, et al.
Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.
Am J Hum Genet. 2014.
PMID: 25439727
Free PMC article.
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Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis.
Honsho M, Asaoku S, Fujiki Y.
Honsho M, et al.
J Biol Chem. 2010 Mar 19;285(12):8537-42. doi: 10.1074/jbc.M109.083311. Epub 2010 Jan 13.
J Biol Chem. 2010.
PMID: 20071337
Free PMC article.
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Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions.
Cheng JB, Russell DW.
Cheng JB, et al.
J Biol Chem. 2004 Sep 3;279(36):37789-97. doi: 10.1074/jbc.M406225200. Epub 2004 Jun 27.
J Biol Chem. 2004.
PMID: 15220348
Free PMC article.
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