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1 to 25 of 28  Show
  1. 1
    "Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance."
    Mochel F., Knight M.A., Tong W.-H., Hernandez D., Ayyad K., Taivassalo T., Andersen P.M., Singleton A., Rouault T.A., Fischbeck K.H., Haller R.G.
    Am. J. Hum. Genet. 82:652-660(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 1 and mapped to 3 other entries.

  2. 2
    "Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2."
    Acquaviva F., De Biase I., Nezi L., Ruggiero G., Tatangelo F., Pisano C., Monticelli A., Garbi C., Acquaviva A.M., Cocozza S.
    J. Cell Sci. 118:3917-3924(2005) [PubMed] [Europe PMC] [Abstract]
    Annotation: Data suggest that frataxin may be involved in the biosynthesis of iron-sulphur proteins such as IscU1 not only within the mitochondria but also in the extramitochondrial compartment.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 8 other entries.

  3. 3
    "Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis."
    Tong W.H., Rouault T.A.
    Cell Metab. 3:199-210(2006) [PubMed] [Europe PMC] [Abstract]
    Annotation: Functional analysis of the mitochondrial and cytosolic isoforms of the human Fe-S cluster scaffold protein ISCU.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  4. 4
    "Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly."
    Li K., Tong W.H., Hughes R.M., Rouault T.A.
    J. Biol. Chem. 281:12344-12351(2006) [PubMed] [Europe PMC] [Abstract]
    Annotation: the cytosolic form of ISCS is a functional cysteine desulfurase that can collaborate with cytosolic ISCU to promote de novo iron-sulfur cluster formationImported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  5. 5
    "Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect."
    Olsson A., Lind L., Thornell L.E., Holmberg M.
    Hum. Mol. Genet. 17:1666-1672(2008) [PubMed] [Europe PMC] [Abstract]
    Annotation: Intron mutation in the ISCU gene leading to incorrectly spliced mRNA is the cause of myopathy with lactic acidosis in this family.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  6. 6
    "Mapping iron binding sites on human frataxin: implications for cluster assembly on the ISU Fe-S cluster scaffold protein."
    Huang J., Dizin E., Cowan J.A.
    J. Biol. Inorg. Chem. 13:825-836(2008) [PubMed] [Europe PMC] [Abstract]
    Annotation: the iron-dependent binding affinity of each frataxin derivative to the iron-sulfur cluster scaffold protein ISU is found to be similar to that of native frataxinImported.
    Source: GeneRIF:23479.

    This publication is mapped to 9 other entries.

  7. 7
    "Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy."
    Kollberg G., Tulinius M., Melberg A., Darin N., Andersen O., Holmgren D., Oldfors A., Holme E.
    Brain 132:2170-2179(2009) [PubMed] [Europe PMC] [Abstract]
    Annotation: a new ISCU mutation in iron-sulphur cluster deficiency myopathyImported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  8. 8
    "MicroRNA-210 controls mitochondrial metabolism during hypoxia by repressing the iron-sulfur cluster assembly proteins ISCU1/2."
    Chan S.Y., Zhang Y.Y., Hemann C., Mahoney C.E., Zweier J.L., Loscalzo J.
    Cell Metab. 10:273-284(2009) [PubMed] [Europe PMC] [Abstract]
    Annotation: Results identify the iron-sulfur cluster assembly proteins (ISCU1/2) as direct targets for repression by the hypoxia-induced microRNA-210.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 8 other entries.

  9. 9
    "MicroRNA-210 regulates mitochondrial free radical response to hypoxia and krebs cycle in cancer cells by targeting iron sulfur cluster protein ISCU."
    Favaro E., Ramachandran A., McCormick R., Gee H., Blancher C., Crosby M., Devlin C., Blick C., Buffa F., Li J.L., Vojnovic B., Pires das Neves R., Glazer P., Iborra F., Ivan M., Ragoussis J., Harris A.L.
    PLoS ONE 5:e10345-e10345(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: miR-210 mediates a new mechanism of adaptation to hypoxia by regulating mitochondrial function via iron-sulfur cluster metabolism and free radical generationImported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  10. 10
    "Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression."
    Chen Z., Li Y., Zhang H., Huang P., Luthra R.
    Oncogene 29:4362-4368(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: ISCU and COX10 are target genes of miR-210 related to mitochondrial metabolismImported.
    Source: GeneRIF:23479.

    This publication is mapped to 7 other entries.

  11. 11
    "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression."
    Hendrickson S.L., Lautenberger J.A., Chinn L.W., Malasky M., Sezgin E., Kingsley L.A., Goedert J.J., Kirk G.D., Gomperts E.D., Buchbinder S.P., Troyer J.L., O'Brien S.J.
    PLoS ONE 5:e12862-e12862(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 3031 other entries.

  12. 12
    "Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice."
    Nordin A., Larsson E., Thornell L.E., Holmberg M.
    Hum. Genet. 129:371-378(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: Data show that the highest level of incorrectly spliced ISCU mRNA was found in skeletal muscle.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  13. 13
    "Mechanism of glutaredoxin-ISU [2Fe-2S] cluster exchange."
    Qi W., Cowan J.A.
    Chem. Commun. (Camb.) 47:4989-4991(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: Exchange of [2Fe-2S]Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 7 other entries.

  14. 14
    "miR-210 targets iron-sulfur cluster scaffold homologue in human trophoblast cell lines: siderosis of interstitial trophoblasts as a novel pathology of preterm preeclampsia and small-for-gestational-age pregnancies."
    Lee D.C., Romero R., Kim J.S., Tarca A.L., Montenegro D., Pineles B.L., Kim E., Lee J., Kim S.Y., Draghici S., Mittal P., Kusanovic J.P., Chaiworapongsa T., Hassan S.S., Kim C.J.
    Am. J. Pathol. 179:590-602(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: iron-sulfur cluster scaffold homologue down-regulation by miR-210 perturbing trophoblast iron metabolism is associated with defective placentationImported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  15. 15
    "The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1."
    Nordin A., Larsson E., Holmberg M.
    Hum. Mutat. 33:467-470(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 7 other entries.

  16. 16
    "Heterotrifunctional chemical cross-linking mass spectrometry confirms physical interaction between human frataxin and ISU."
    Watson H.M., Gentry L.E., Asuru A.P., Wang Y., Marcus S., Busenlehner L.S.
    Biochemistry 51:6889-6891(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: Photoreactive heterotrifunctional chemical cross-linking confirmed the interaction between frataxin and ISCU in the presence of iron and validated that transient interactions can be covalently trapped with this method.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 9 other entries.

  17. 17
    "Identification of a signaling axis HIF-1alpha/microRNA-210/ISCU independent of SDH mutation that defines a subgroup of head and neck paragangliomas."
    Merlo A., de Quiros S.B., Secades P., Zambrano I., Balbin M., Astudillo A., Scola B., Aristegui M., Suarez C., Chiara M.D.
    J. Clin. Endocrinol. Metab. 97:E2194-200(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: this study unveiled a signaling axis of HIF-1alpha/miRNA-210/iron-sulfur cluster scaffold protein in a subset of head and neck paragangliomas that could have an impact on SDHB protein stability by a mechanism independent of succinate dehydrogenase mutationsImported.
    Source: GeneRIF:23479.

    This publication is mapped to 14 other entries.

  18. 18
    "Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy."
    Crooks D.R., Jeong S.Y., Tong W.H., Ghosh M.C., Olivierre H., Haller R.G., Rouault T.A.
    J. Biol. Chem. 287:40119-40130(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: ISCU protein deficiency in patients results from muscle-specific mis-splicing and oxidative stress.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 5 other entries.

  19. 19
    "miR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis."
    McCormick R.I., Blick C., Ragoussis J., Schoedel J., Mole D.R., Young A.C., Selby P.J., Banks R.E., Harris A.L.
    Br. J. Cancer 108:1133-1142(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: MicroRNA-210 correlates negatively with its gene target ISCU at the protein and mRNA level. MicroRNA-210 correlated with positive outcome variablesImported.
    Source: GeneRIF:23479.

    This publication is mapped to 14 other entries.

  20. 20
    "Mammalian target of rapamycin complex 1 (mTORC1)-mediated phosphorylation stabilizes ISCU protein: implications for iron metabolism."
    La P., Yang G., Dennery P.A.
    J. Biol. Chem. 288:12901-12909(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: mTORC1 associates with ISCU and phosphorylates ISCU at serine 14. This phosphorylation stabilized ISCU protein.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 24 other entries.

  21. 21
    "Human mitochondrial chaperone (mtHSP70) and cysteine desulfurase (NFS1) bind preferentially to the disordered conformation, whereas co-chaperone (HSC20) binds to the structured conformation of the iron-sulfur cluster scaffold protein (ISCU)."
    Cai K., Frederick R.O., Kim J.H., Reinen N.M., Tonelli M., Markley J.L.
    J. Biol. Chem. 288:28755-28770(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: NFS1 binds preferentially to the D-state of ISCU while mtHSP70 binds preferentially to the D-state of ISCU and HSC20 binds preferentially to the S-state of ISCU.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 23 other entries.

  22. 22
    "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 P.P., Kumar S.K., Srivastava S., Sinha D., Pareek G., D'Silva P.
    J. Biol. Chem. 289:10359-10377(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: the G50E iron-sulfur cluster scaffold protein (ISCU) mutation has a role in mitochondrial myopathyImported.
    Source: GeneRIF:23479.

    This publication is mapped to 7 other entries.

  23. 23
    "Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry."
    Bridwell-Rabb J., Fox N.G., Tsai C.L., Winn A.M., Barondeau D.P.
    Biochemistry 53:4904-4913(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: Fe-S assembly protein (ISCU2) and frataxin convert substrates l-cysteine ferrous iron and electrons into Fe-S clusters.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 9 other entries.

  24. 24
    "The p38 pathway regulates oxidative stress tolerance by phosphorylation of mitochondrial protein IscU."
    Tian L., Chen J., Chen M., Gui C., Zhong C.Q., Hong L., Xie C., Wu X., Yang L., Ahmad V., Han J.
    J. Biol. Chem. 289:31856-31865(2014) [PubMed] [Europe PMC] [Abstract]
    Annotation: IscU is a new substrate of MK2 both in Drosophila cells and in human cellsImported.
    Source: GeneRIF:23479.

    This publication is mapped to 23 other entries.

  25. 25
    Annotation: Thus driven by acquired (hypoxia) or genetic causes the miR-210-ISCU1/2 regulatory axis is a pathogenic lynchpin causing iron-sulfur deficiency and pulmonary hypertension.Imported.
    Source: GeneRIF:23479.

    This publication is mapped to 8 other entries.

1 to 25 of 28  Show