ISCU
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene.[5][6][7]
A deficiency of ISCU is associated with a mitochondrial myopathy with lifelong exercise intolerance where only minor exertion causes tachycardia, shortness of breath, muscle weakness and myalgia.[8]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000136003 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025825 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Hwang DM, Dempsey A, Tan KT, Liew CC (Nov 1996). "A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution". Journal of Molecular Evolution. 43 (5): 536–40. PMID 8875867. doi:10.1007/BF02337525.
- ↑ Tong WH, Rouault T (Nov 2000). "Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells". The EMBO Journal. 19 (21): 5692–700. PMC 305809
. PMID 11060020. doi:10.1093/emboj/19.21.5692. - ↑ "Entrez Gene: ISCU iron-sulfur cluster scaffold homolog (E. coli)".
- ↑ Mochel F, Haller RG (2009-03-31). "Myopathy with Deficiency of ISCU". GeneReviews. Updated 2011 Sep 1
Further reading
- Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG (Mar 2008). "Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance". American Journal of Human Genetics. 82 (3): 652–60. PMC 2427212 . PMID 18304497. doi:10.1016/j.ajhg.2007.12.012.
- Li K, Tong WH, Hughes RM, Rouault TA (May 2006). "Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly". The Journal of Biological Chemistry. 281 (18): 12344–51. PMID 16527810. doi:10.1074/jbc.M600582200.
- Tong WH, Rouault TA (Mar 2006). "Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis". Cell Metabolism. 3 (3): 199–210. PMID 16517407. doi:10.1016/j.cmet.2006.02.003.
- Acquaviva F, De Biase I, Nezi L, Ruggiero G, Tatangelo F, Pisano C, Monticelli A, Garbi C, Acquaviva AM, Cocozza S (Sep 2005). "Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2". Journal of Cell Science. 118 (Pt 17): 3917–24. PMID 16091420. doi:10.1242/jcs.02516.
- Benzinger A, Muster N, Koch HB, Yates JR, Hermeking H (Jun 2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Molecular & Cellular Proteomics. 4 (6): 785–95. PMID 15778465. doi:10.1074/mcp.M500021-MCP200.
External links
- GeneReviews/NCBI/NIH/UW entry on Myopathy with Deficiency of ISCU
- GeneReviews/NIH/NCBI/UW entry on Myopathy with Deficiency of ISCU
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