Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ1-piperideine-6-carboxylate generating L-pipecolic acid
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-013-9673-4
Reference12 articles.
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2. Guernsey DL, Jiang H, Evans SC et al (2009) Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet 85(1):120–129
3. Linster CL, Van Schaftingen E, Hanson AD (2013) Metabolite damage and its repair or pre-emption. Nat Chem Biol 9(2):72–80
4. Martinelli D, Häberle J, Rubio V et al (2012) Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. J Inherit Metab Dis 35(5):761–776
5. Mills PB, Struys E, Jakobs C et al (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12(3):307–309
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