A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening?

Dayangac-Erden D. , Topaloglu H., Erdem-Yurter H.

ADVANCES IN THERAPY, cilt.25, sa.3, ss.274-279, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Konu: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s12325-008-0030-1
  • Sayfa Sayıları: ss.274-279


Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease of the motor neurons that results in progressive muscle weakness. It is also the leading hereditary cause of infant mortality. Homozygous loss of the survival motor neuron (SMN1) gene causes SMA, and the number of copies of the SMN2 gene modulates the severity of the disease. Increasing the expression of the SMN2 gene by pharmacological agents is one of the therapeutic approaches currently being implemented.