BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

80 related articles for article (PubMed ID: 22155317)

  • 1. Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis.
    Sanaker PS; Toompuu M; McClorey G; Bindoff LA
    Gene; 2012 Feb; 494(2):231-6. PubMed ID: 22155317
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.
    Kollberg G; Holme E
    Neuromuscul Disord; 2009 Dec; 19(12):833-6. PubMed ID: 19846308
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 17(11):1666-72. PubMed ID: 18296749
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 2012 Mar; 33(3):467-70. PubMed ID: 22125086
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 21165651
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.
    Rawcliffe DF; Österman L; Lindsten H; Holmberg M
    PLoS One; 2016; 11(10):e0165453. PubMed ID: 27783661
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.
    Holmes-Hampton GP; Crooks DR; Haller RG; Guo S; Freier SM; Monia BP; Rouault TA
    Hum Mol Genet; 2016 Dec; 25(23):5178-5187. PubMed ID: 28007899
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 20206689
    [TBL] [Abstract][Full Text] [Related]  

  • 10. PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
    Rawcliffe DFR; Österman L; Nordin A; Holmberg M
    Mol Genet Genomic Med; 2018 Nov; 6(6):887-897. PubMed ID: 30209894
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
    Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 21196119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
    Rodríguez-Pascau L; Coll MJ; Vilageliu L; Grinberg D
    Hum Mutat; 2009 Nov; 30(11):E993-E1001. PubMed ID: 19718781
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel de novo dominant mutation in
    Legati A; Reyes A; Ceccatelli Berti C; Stehling O; Marchet S; Lamperti C; Ferrari A; Robinson AJ; Mühlenhoff U; Lill R; Zeviani M; Goffrini P; Ghezzi D
    J Med Genet; 2017 Dec; 54(12):815-824. PubMed ID: 29079705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD.
    McClorey G; Moulton HM; Iversen PL; Fletcher S; Wilton SD
    Gene Ther; 2006 Oct; 13(19):1373-81. PubMed ID: 16724091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Brasil S; Viecelli HM; Meili D; Rassi A; Desviat LR; Pérez B; Ugarte M; Thöny B
    Hum Mutat; 2011 Sep; 32(9):1019-27. PubMed ID: 21542064
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
    Graham IR; Hill VJ; Manoharan M; Inamati GB; Dickson G
    J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 18304497
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene.
    Errington SJ; Mann CJ; Fletcher S; Wilton SD
    J Gene Med; 2003 Jun; 5(6):518-27. PubMed ID: 12797117
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Induction of dystrophin expression by exon skipping in mdx mice following intramuscular injection of antisense oligonucleotides complexed with PEG-PEI copolymers.
    Williams JH; Sirsi SR; Latta DR; Lutz GJ
    Mol Ther; 2006 Jul; 14(1):88-96. PubMed ID: 16488666
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.