Increased IRP1 activity in Friedreich ataxia

Gene

Volumn 354, Issue 1-2 SPEC. ISS., 2005, Pages 157-161

  Lobmayr, Lioba ^a   Brooks, David G ^b,c   Wilson, Robert B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c MERCK RESEARCH LABORATORIES   (United States)

Author keywords

Iron sulfur cluster; Mitochondria; RNA binding

Indexed keywords

IRON; IRON REGULATORY PROTEIN 1; SULFUR;

CELL LINE; CONFERENCE PAPER; FIBROBLAST; FRIEDREICH ATAXIA; GENE ACTIVITY; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; PRIORITY JOURNAL; RNA BINDING;

CELLS, CULTURED; DOSE-RESPONSE RELATIONSHIP, DRUG; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX II; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FIBROBLASTS; FRIEDREICH ATAXIA; HUMANS; IRON; IRON REGULATORY PROTEIN 1; IRON-REGULATORY PROTEINS; PROTEIN BINDING;

ATAXIA;

EID: 23644444604     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.04.040     Document Type: Conference Paper

References (28)

1. J. Adamec Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia Am. J. Hum. Genet. 67 2000 549 562
2. M. Babcock Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin Science 276 1997 1709 1712
3. V. Campuzano Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science 271 1996 1423 1427 (see comments)
4. V. Campuzano Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes Hum. Mol. Genet. 6 1997 1771 1780
5. P. Cavadini, C. Gellera, P.I. Patel, and G. Isaya Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae Hum. Mol. Genet. 9 2000 2523 2530
6. P. Cavadini, H.A. O'Neill, O. Benada, and G. Isaya Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia Hum. Mol. Genet. 11 2002 217 227
7. M. Cossee Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation Hum. Mol. Genet. 9 2000 1219 1226
8. M.B. Delatycki Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia Ann. Neurol. 45 1999 673 675
9. A. Durr Clinical and genetic abnormalities in patients with Friedreich's ataxia New Engl. J. Med. 335 1996 1169 1175
10. F. Foury Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain FEBS Lett. 456 1999 281 284
11. F. Foury, and O. Cazzalini Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria FEBS Lett. 411 1997 373 377
12. O. Gakh, J. Adamec, A.M. Gacy, R.D. Twesten, W.G. Owen, and G. Isaya Physical evidence that yeast frataxin is an iron storage protein Biochemistry 41 2002 6798 6804
13. J. Gerber, U. Muhlenhoff, and R. Lill An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1 EMBO Rep. 4 2003 906 911
14. G. Hofhaus, R.M. Shakeley, and G. Attardi Use of polarography to detect respiration defects in cell cultures Methods Enzymol. 264 1996 476 483
15. H. Koutnikova, V. Campuzano, F. Foury, P. Dolle, O. Cazzalini, and M. Koenig Studies of human, mouse, and yeast homologues indicate a mitochondrial function for frataxin Nat. Genet. 16 1997 345 351
16. L. Lobmayr Transferrin receptor hyperexpression in primary erythroblasts is lost upon transformation by avian erythroblastosis virus Blood 100 2002 289 298
17. U. Muhlenhoff, N. Richhardt, M. Ristow, G. Kispal, and R. Lill The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins Hum. Mol. Genet. 11 2002 2025 2036
18. U. Muhlenhoff, J. Gerber, N. Richhardt, and R. Lill Components involved in assembly and dislocation of iron-sulfur clusters on the scaffold protein Isu1p Embo J. 22 2003 4815 4825
19. K. Ohshima, L. Montermini, R.D. Wells, and M. Pandolfo Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo J. Biol. Chem. 273 1998 14588 14595
20. M. Pandolfo Molecular pathogenesis of Friedreich's ataxia Neurol. Rev. 56 1999 1201 1208
21. P.I. Patel, and G. Isaya Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency Am. J. Hum. Genet. 69 2001 15 24
22. H. Puccio Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits Nat. Genet. 27 2001 181 186
23. D.C. Radisky, M.C. Babcock, and J.K. Kaplan The yeast frataxin homologue mediates mitochondrial iron efflux: evidence for a mitochondrial iron cycle J. Biol. Chem. 274 1999 4497 4499
24. A. Rotig Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia Nat. Genet. 17 1997 215 217
25. T. Rouault, and R. Klausner Regulation of iron metabolism in eukaryotes Curr. Top. Cell. Regul. 35 1997 1 19
26. H. Seznec Friedreich ataxia, the oxidative stress paradox Hum. Mol. Genet. 14 2004 463 474
27. B. Sturm Friedreich's ataxia: no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts. A decrease in antioxidative capacity? J. Biol. Chem. 280 2004 6701 6708
28. R.B. Wilson, and D.M. Roof Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue Nat. Genet. 16 1997 352 357