Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100

1.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T.

J Hum Genet. 2018 Dec;63(12):1211-1222. doi: 10.1038/s10038-018-0515-y. Epub 2018 Sep 25.

2.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T.

Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Erratum in: Hum Mol Genet. 2018 Jun 15;27(12):2224.

3.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S.

Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28.

4.

Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis.

Shi Y, Ghosh M, Kovtunovych G, Crooks DR, Rouault TA.

Biochim Biophys Acta. 2012 Feb;1823(2):484-92. doi: 10.1016/j.bbamcr.2011.11.002. Epub 2011 Nov 10.

5.

Transcriptional regulation of human ferredoxin reductase through an intronic enhancer in steroidogenic cells.

Imamichi Y, Mizutani T, Ju Y, Matsumura T, Kawabe S, Kanno M, Yazawa T, Miyamoto K.

Biochim Biophys Acta. 2014 Jan;1839(1):33-42. doi: 10.1016/j.bbagrm.2013.11.005. Epub 2013 Dec 7.

PMID:
24321386
6.

Mutations in a P-type ATPase gene cause axonal degeneration.

Zhu X, Libby RT, de Vries WN, Smith RS, Wright DL, Bronson RT, Seburn KL, John SW.

PLoS Genet. 2012;8(8):e1002853. doi: 10.1371/journal.pgen.1002853. Epub 2012 Aug 9.

7.

Ferredoxin reductase is critical for p53-dependent tumor suppression via iron regulatory protein 2.

Zhang Y, Qian Y, Zhang J, Yan W, Jung YS, Chen M, Huang E, Lloyd K, Duan Y, Wang J, Liu G, Chen X.

Genes Dev. 2017 Jun 15;31(12):1243-1256. doi: 10.1101/gad.299388.117. Epub 2017 Jul 26.

8.

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice.

Xu YF, Zhang YJ, Lin WL, Cao X, Stetler C, Dickson DW, Lewis J, Petrucelli L.

Mol Neurodegener. 2011 Oct 26;6:73. doi: 10.1186/1750-1326-6-73.

9.

Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice.

Vidal R, Miravalle L, Gao X, Barbeito AG, Baraibar MA, Hekmatyar SK, Widel M, Bansal N, Delisle MB, Ghetti B.

J Neurosci. 2008 Jan 2;28(1):60-7. doi: 10.1523/JNEUROSCI.3962-07.2008.

10.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I.

Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22.

11.

Increased mtDNA mutations with aging promotes amyloid accumulation and brain atrophy in the APP/Ld transgenic mouse model of Alzheimer's disease.

Kukreja L, Kujoth GC, Prolla TA, Van Leuven F, Vassar R.

Mol Neurodegener. 2014 May 2;9:16. doi: 10.1186/1750-1326-9-16.

12.

Prion infection of mouse brain reveals multiple new upregulated genes involved in neuroinflammation or signal transduction.

Carroll JA, Striebel JF, Race B, Phillips K, Chesebro B.

J Virol. 2015 Feb;89(4):2388-404. doi: 10.1128/JVI.02952-14. Epub 2014 Dec 10.

13.

Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.

Kyrkanides S, Brouxhon SM, Tallents RH, Miller JN, Olschowka JA, O'Banion MK.

J Neuroinflammation. 2012 Aug 4;9:186.

14.

[Neurodegeneration and inflammation: analysis of a FTDP-17 model mouse].

Yoshiyama Y.

Rinsho Shinkeigaku. 2008 Nov;48(11):910-2. Review. Japanese.

PMID:
19198115
15.

Mitochondrial DNA mutations in disease, aging, and neurodegeneration.

Reeve AK, Krishnan KJ, Turnbull D.

Ann N Y Acad Sci. 2008 Dec;1147:21-9. doi: 10.1196/annals.1427.016. Review.

PMID:
19076427
16.

Mitochondrial dysfunction precedes neurodegeneration in mahogunin (Mgrn1) mutant mice.

Sun K, Johnson BS, Gunn TM.

Neurobiol Aging. 2007 Dec;28(12):1840-52. Epub 2007 Aug 27.

17.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

18.

Neuroinflammation and oxidation/nitration of alpha-synuclein linked to dopaminergic neurodegeneration.

Gao HM, Kotzbauer PT, Uryu K, Leight S, Trojanowski JQ, Lee VM.

J Neurosci. 2008 Jul 23;28(30):7687-98. doi: 10.1523/JNEUROSCI.0143-07.2008.

19.

Gene expression of ferredoxin reductase predicts outcome in patients with metastatic colorectal cancer treated by 5-fluorouracil plus leucovorin.

Ichikawa W, Ooyama A, Toda E, Sugimoto Y, Oka T, Takahashi T, Shimizu M, Sasaki Y, Hirayama R.

Cancer Chemother Pharmacol. 2006 Dec;58(6):794-801. Epub 2006 Mar 10.

PMID:
16528528
20.

Combined expression of tau and the Harlequin mouse mutation leads to increased mitochondrial dysfunction, tau pathology and neurodegeneration.

Kulic L, Wollmer MA, Rhein V, Pagani L, Kuehnle K, Cattepoel S, Tracy J, Eckert A, Nitsch RM.

Neurobiol Aging. 2011 Oct;32(10):1827-38. doi: 10.1016/j.neurobiolaging.2009.10.014. Epub 2009 Nov 25.

PMID:
19942317

Supplemental Content

Support Center