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-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s12325-008-0030-1
  • Dergi Adı: ADVANCES IN THERAPY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.274-279
  • Anahtar Kelimeler: histone deacetylase inhibitors, lymphoblastoid cell lines, phenylbutyrate, survival motor neuron gene, therapy, VALPROIC ACID INCREASES, GENE, DELETION, PROTEIN
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.