These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
171 related articles for article (PubMed ID: 27783661)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. 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; 287(48):40119-30. PubMed ID: 23035118 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle. Crooks DR; Natarajan TG; Jeong SY; Chen C; Park SY; Huang H; Ghosh MC; Tong WH; Haller RG; Wu C; Rouault TA Hum Mol Genet; 2014 Jan; 23(1):24-39. PubMed ID: 23943793 [TBL] [Abstract][Full Text] [Related]
11. 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]
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]
14. Loss of SRSF3 in Cardiomyocytes Leads to Decapping of Contraction-Related mRNAs and Severe Systolic Dysfunction. Ortiz-Sánchez P; Villalba-Orero M; López-Olañeta MM; Larrasa-Alonso J; Sánchez-Cabo F; Martí-Gómez C; Camafeita E; Gómez-Salinero JM; Ramos-Hernández L; Nielsen PJ; Vázquez J; Müller-McNicoll M; García-Pavía P; Lara-Pezzi E Circ Res; 2019 Jul; 125(2):170-183. PubMed ID: 31145021 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. RBM4-SRSF3-MAP4K4 splicing cascade modulates the metastatic signature of colorectal cancer cell. Lin JC; Lee YC; Tan TH; Liang YC; Chuang HC; Fann YC; Johnson KR; Lin YJ Biochim Biophys Acta Mol Cell Res; 2018 Feb; 1865(2):259-272. PubMed ID: 29138007 [TBL] [Abstract][Full Text] [Related]
17. Adapted Resistance to the Knockdown Effect of shRNA-Derived Srsf3 siRNAs in Mouse Littermates. Ajiro M; Jia R; Wang RH; Deng CX; Zheng ZM Int J Biol Sci; 2015; 11(11):1248-56. PubMed ID: 26435690 [TBL] [Abstract][Full Text] [Related]
18. SRSF5 functions as a novel oncogenic splicing factor and is upregulated by oncogene SRSF3 in oral squamous cell carcinoma. Yang S; Jia R; Bian Z Biochim Biophys Acta Mol Cell Res; 2018 Sep; 1865(9):1161-1172. PubMed ID: 29857020 [TBL] [Abstract][Full Text] [Related]
19. Oxidative stress-inducible truncated serine/arginine-rich splicing factor 3 regulates interleukin-8 production in human colon cancer cells. Kano S; Nishida K; Kurebe H; Nishiyama C; Kita K; Akaike Y; Kajita K; Kurokawa K; Masuda K; Kuwano Y; Tanahashi T; Rokutan K Am J Physiol Cell Physiol; 2014 Feb; 306(3):C250-62. PubMed ID: 24284797 [TBL] [Abstract][Full Text] [Related]
20. The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis. Gabut M; Miné M; Marsac C; Brivet M; Tazi J; Soret J Mol Cell Biol; 2005 Apr; 25(8):3286-94. PubMed ID: 15798212 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]