Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

Article English OPEN
Arandel, Ludovic; Polay Espinoza, Micaela; Matloka, Magdalena; Bazinet, Audrey; De Dea Diniz, Damily; Naouar, Naïra; Rau, Frédérique; Jollet, Arnaud; Edom-Vovard, Frédérique; Mamchaoui, Kamel; Tarnopolsky, Mark; Puymirat, Jack; Battail, Christophe; Boland, Anne; Deleuze, Jean-Francois; Mouly, Vincent; Klein, Arnaud F.; Furling, Denis;
(2017)
  • Publisher: The Company of Biologists
  • Journal: Disease Models & Mechanisms,volume 10,issue 4,pages487-497 (issn: 1754-8403, eissn: 1754-8411)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.1242/dmm.027367, pmc: PMC5399563
  • Subject: Dd | Resource Article | RB1-214 | Expanded repeats | Pathology | Alternative splicing | Medicine | [SDV.BC]Life Sciences [q-bio]/Cellular Biology | Myotonic dystrophy | Therapeutic compounds | R | [ SDV.BC ] Life Sciences [q-bio]/Cellular Biology | Muscle cell line | [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology | [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology | Nuclear aggregates
    mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | musculoskeletal diseases

International audience; Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA-dominant disorders. Availability of cellular models in which the DM mutation is exp... View more
  • References (65)
    65 references, page 1 of 7

    Amack, J. D., Reagan, S. R. and Mahadevan, M. S. (2002). Mutant DMPK 3′-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD. J. Cell Biol. 159, 419-429.

    Anders, S., Reyes, A. and Huber, W. (2012). Detecting differential usage of exons from RNA-seq data. Genome Res. 22, 2008-2017.

    Barde, I., Zanta-Boussif, M. A., Paisant, S., Leboeuf, M., Rameau, P., Delenda, C. and Danos, O. (2006). Efficient control of gene expression in the hematopoietic system using a single Tet-on inducible lentiviral vector. Mol. Ther. 13, 382-390.

    Bigot, A., Klein, A. F., Gasnier, E., Jacquemin, V., Ravassard, P., ButlerBrowne, G., Mouly, V. and Furling, D. (2009). Large CTG repeats trigger p16- dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells. Am. J. Pathol. 174, 1435-1442.

    Bodnar, A. G., Ouellette, M., Frolkis, M., Holt, S. E., Chiu, C.-P., Morin, G. B., Harley, C. B., Shay, J. W., Lichtsteiner, S. and Wright, W. E. (1998). Extension of life-span by introduction of telomerase into normal human cells. Science 279, 349-352.

    Bolger, A. M., Lohse, M. and Usadel, B. (2014). Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30, 2114-2120.

    Botta, A., Malena, A., Loro, E., Del Moro, G., Suman, M., Pantic, B., Szabadkai, G. and Vergani, L. (2013). Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. Genes (Basel) 4, 275-292.

    Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A. J., Church, D., Aburatani, H., Hunter, K., Stanton, V. P., Thirion, J.-P., Hudson, T. et al. (1992). Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808.

    Cardani, R., Mancinelli, E., Rotondo, G., Sansone, V. and Meola, G. (2006). Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Eur. J. Histochem. 50, 177-182.

    Caron, L., Kher, D., Lee, K. L., McKernan, R., Dumevska, B., Hidalgo, A., Li, J., Yang, H., Main, H., Ferri, G. et al. (2016). A human pluripotent stem cell model of facioscapulohumeral muscular dystrophy-affected skeletal muscles. Stem Cells Transl. Med. 5, 1145-1161.

  • Related Organizations (3)
  • Metrics
Share - Bookmark