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Items: 1 to 20 of 52


Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors.

Barupala DP, Dzul SP, Riggs-Gelasco PJ, Stemmler TL.

Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/ Epub 2016 Jan 16. Review.


Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Akman HO, Aykit Y, Amuk OC, Malfatti E, Romero NB, Maioli MA, Piras R, DiMauro S, Marrosu G.

Neuromuscul Disord. 2016 Jan;26(1):16-20. doi: 10.1016/j.nmd.2015.10.012. Epub 2015 Nov 10.


Altered Gene Expression Associated with microRNA Binding Site Polymorphisms.

Võsa U, Esko T, Kasela S, Annilo T.

PLoS One. 2015 Oct 23;10(10):e0141351. doi: 10.1371/journal.pone.0141351. eCollection 2015.


Cardiac metabolic pathways affected in the mouse model of barth syndrome.

Huang Y, Powers C, Madala SK, Greis KD, Haffey WD, Towbin JA, Purevjav E, Javadov S, Strauss AW, Khuchua Z.

PLoS One. 2015 Jun 1;10(6):e0128561. doi: 10.1371/journal.pone.0128561. eCollection 2015.


Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.

Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015.


Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.

White K, Lu Y, Annis S, Hale AE, Chau BN, Dahlman JE, Hemann C, Opotowsky AR, Vargas SO, Rosas I, Perrella MA, Osorio JC, Haley KJ, Graham BB, Kumar R, Saggar R, Saggar R, Wallace WD, Ross DJ, Khan OF, Bader A, Gochuico BR, Matar M, Polach K, Johannessen NM, Prosser HM, Anderson DG, Langer R, Zweier JL, Bindoff LA, Systrom D, Waxman AB, Jin RC, Chan SY.

EMBO Mol Med. 2015 Mar 30;7(6):695-713. doi: 10.15252/emmm.201404511.


Emerging critical roles of Fe-S clusters in DNA replication and repair.

Fuss JO, Tsai CL, Ishida JP, Tainer JA.

Biochim Biophys Acta. 2015 Jun;1853(6):1253-71. doi: 10.1016/j.bbamcr.2015.01.018. Epub 2015 Feb 2. Review.


Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I.

Front Genet. 2014 Nov 20;5:412. doi: 10.3389/fgene.2014.00412. eCollection 2014.


Fe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron and requirements for GTP, NADH, and ATP.

Pandey A, Pain J, Ghosh AK, Dancis A, Pain D.

J Biol Chem. 2015 Jan 2;290(1):640-57. doi: 10.1074/jbc.M114.610402. Epub 2014 Nov 14.


Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.

Maio N, Rouault TA.

Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19. Review.


Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.

Martelli A, Puccio H.

Front Pharmacol. 2014 Jun 3;5:130. doi: 10.3389/fphar.2014.00130. eCollection 2014. Review.


Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease.

Isaya G.

Front Pharmacol. 2014 Mar 3;5:29. doi: 10.3389/fphar.2014.00029. eCollection 2014. Review.


The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy.

Saha PP, Kumar SK, Srivastava S, Sinha D, Pareek G, D'Silva P.

J Biol Chem. 2014 Apr 11;289(15):10359-77. doi: 10.1074/jbc.M113.526665. Epub 2014 Feb 26.


The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype.

Raja V, Greenberg ML.

Chem Phys Lipids. 2014 Apr;179:49-56. doi: 10.1016/j.chemphyslip.2013.12.009. Epub 2014 Jan 17. Review.


Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL.

Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.


Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O.

Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.


miR-210: fine-tuning the hypoxic response.

Ivan M, Huang X.

Adv Exp Med Biol. 2014;772:205-27. doi: 10.1007/978-1-4614-5915-6_10. Review.


Role of pseudoexons and pseudointrons in human cancer.

Romano M, Buratti E, Baralle D.

Int J Cell Biol. 2013;2013:810572. doi: 10.1155/2013/810572. Epub 2013 Sep 24. Review.


Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.

Crooks DR, Natarajan TG, Jeong SY, Chen C, Park SY, Huang H, Ghosh MC, Tong WH, Haller RG, Wu C, Rouault TA.

Hum Mol Genet. 2014 Jan 1;23(1):24-39. doi: 10.1093/hmg/ddt393. Epub 2013 Aug 13.

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