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Li, V. FOLR1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5569 (accessed on 21 September 2026).
Li V. FOLR1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5569. Accessed September 21, 2026.
Li, Vivi. "FOLR1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5569 (accessed September 21, 2026).
Li, V. (2020, December 25). FOLR1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5569
Li, Vivi. "FOLR1 Gene." Encyclopedia. Web. 25 December, 2020.
FOLR1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/folr1

Folate receptor 1

genes

References

  1. Cario H, Bode H, Debatin KM, Opladen T, Schwarz K. Congenital null mutationsof the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology.2009 Dec 15;73(24):2127-9. doi: 10.1212/WNL.0b013e3181c679df.
  2. Grapp M, Wrede A, Schweizer M, Hüwel S, Galla HJ, Snaidero N, Simons M,Bückers J, Low PS, Urlaub H, Gärtner J, Steinfeld R. Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma. Nat Commun.2013;4:2123. doi: 10.1038/ncomms3123.
  3. Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonicepilepsy in a patient with a homozygous mutation in the FOLR1 gene. J InheritMetab Dis. 2010 Dec;33(6):795-802. doi: 10.1007/s10545-010-9196-1.
  4. Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P,Wevers R, Grosso S, Gärtner J. Folate receptor alpha defect causes cerebralfolate transport deficiency: a treatable neurodegenerative disorder associatedwith disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. doi:10.1016/j.ajhg.2009.08.005.
  5. Watkins D, Rosenblatt DS. Update and new concepts in vitamin responsivedisorders of folate transport and metabolism. J Inherit Metab Dis. 2012Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 880
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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