FXN Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Vivi Li	+ 439 word(s)	439	2020-12-15 07:53:58

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Li, V. FXN Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5604 (accessed on 21 September 2026).

Li V. FXN Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5604. Accessed September 21, 2026.

Li, Vivi. "FXN Gene" Encyclopedia, https://encyclopedia.pub/entry/5604 (accessed September 21, 2026).

Li, V. (2020, December 25). FXN Gene. In Encyclopedia. https://encyclopedia.pub/entry/5604

Li, Vivi. "FXN Gene." Encyclopedia. Web. 25 December, 2020.

FXN Gene

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fxn

Frataxin

genes

References

Adinolfi S, Trifuoggi M, Politou AS, Martin S, Pastore A. A structuralapproach to understanding the iron-binding properties of phylogeneticallydifferent frataxins. Hum Mol Genet. 2002 Aug 1;11(16):1865-77.
Bidichandani SI, Delatycki MB. Friedreich Ataxia. 1998 Dec 18 [updated 2017Jun 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1281/
Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A,Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S. DNA methylationin intron 1 of the frataxin gene is related to GAA repeat length and age of onsetin Friedreich ataxia patients. J Med Genet. 2008 Dec;45(12):808-12. doi:10.1136/jmg.2008.058594.
Correia AR, Adinolfi S, Pastore A, Gomes CM. Conformational stability of humanfrataxin and effect of Friedreich's ataxia-related mutations on protein folding. Biochem J. 2006 Sep 15;398(3):605-11.
Hebert MD. Targeting the gene in Friedreich ataxia. Biochimie. 2008Aug;90(8):1131-9. doi: 10.1016/j.biochi.2007.12.005.
Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structureand function of frataxin. J Neurol. 2009 Mar;256 Suppl 1:9-17. doi:10.1007/s00415-009-1003-2. Review.
Pandolfo M. Friedreich ataxia. Arch Neurol. 2008 Oct;65(10):1296-303. doi:10.1001/archneur.65.10.1296. Review.
Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P, Procaccio V,Patel M, Drapier JC, Koenig M, Puccio H. Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet. 2005 Feb 15;14(4):463-74.
Stehling O, Elsässer HP, Brückel B, Mühlenhoff U, Lill R. Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Hum Mol Genet.2004 Dec 1;13(23):3007-15.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

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: 971

Entry Collection: MedlinePlus

Update Date: 25 Dec 2020

Table of Contents

Video Upload Options

References