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Items: 1 to 20 of 1464


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. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.


Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.

Kollberg G, Holme E.

Neuromuscul Disord. 2009 Dec;19(12):833-6. doi: 10.1016/j.nmd.2009.09.011. Epub 2009 Oct 20.


Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

Kollberg G, Melberg A, Holme E, Oldfors A.

Neuromuscul Disord. 2011 Feb;21(2):115-20. doi: 10.1016/j.nmd.2010.11.010. Epub 2010 Dec 31.


Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C, Chrzanowska-Lightowlers ZM, Taylor RW, Bindoff LA.

Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4.


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 LE, Holmberg M.

Hum Genet. 2011 Apr;129(4):371-8. doi: 10.1007/s00439-010-0931-3. Epub 2010 Dec 17.


Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG.

Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.


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 LE, Holmberg M.

Hum Mol Genet. 2008 Jun 1;17(11):1666-72. doi: 10.1093/hmg/ddn057. Epub 2008 Feb 23.


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.


Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis.

Sanaker PS, Toompuu M, McClorey G, Bindoff LA.

Gene. 2012 Feb 25;494(2):231-6. doi: 10.1016/j.gene.2011.11.021. Epub 2011 Dec 1.


Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.

Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.


Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW.

Am J Hum Genet. 1998 Jul;63(1):29-36.


Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

Shan Y, Napoli E, Cortopassi G.

Hum Mol Genet. 2007 Apr 15;16(8):929-41. Epub 2007 Mar 1.


Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F.

Arch Neurol. 2005 Feb;62(2):317-20.


Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M.

Hum Mol Genet. 2005 Oct 15;14(20):3079-88. Epub 2005 Sep 9.


Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.

Hall RE, Henriksson KG, Lewis SF, Haller RG, Kennaway NG.

J Clin Invest. 1993 Dec;92(6):2660-6.


Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect.

Haller RG, Henriksson KG, Jorfeldt L, Hultman E, Wibom R, Sahlin K, Areskog NH, Gunder M, Ayyad K, Blomqvist CG, et al.

J Clin Invest. 1991 Oct;88(4):1197-206.


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 DR, Jeong SY, Tong WH, Ghosh MC, Olivierre H, Haller RG, Rouault TA.

J Biol Chem. 2012 Nov 23;287(48):40119-30. doi: 10.1074/jbc.M112.418889. Epub 2012 Oct 3.


Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.


Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K.

Brain. 2005 Aug;128(Pt 8):1861-9. Epub 2005 Apr 27.


A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL.

Am J Med Genet A. 2005 Aug 30;137(2):170-5.

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