Investigations of Microtubule-associated Protein 2 Gene Expression in Spinal Muscular Atrophy

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BORA G., SUCULARLI C., Hensel N., Claus P., Yurter H. E.

JOURNAL OF PEDIATRIC RESEARCH, cilt.6, sa.2, ss.148-154, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4274/jpr.galenos.2019.71473
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.148-154
  • Anahtar Kelimeler: Spinal muscular atrophy, exon-array, microtubule-associated protein 2, MOUSE MODEL, SMN, NORMALIZATION, METAANALYSIS, DEFECTS, PATHWAY, GROWTH
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Aim: Spinal muscular atrophy (SMA) is a devastating genetic disease in childhood andff is caused by the absence of functional survival motor neuron (SMN) protein, which leads to impairments of the cytoskeleton, especially in neurons. Dysregulation of actin dynamics have been linked to SMA patho mechanisms, however involvement of altered microtubule dynamics is largely unknown. In this study, we investigated differentially expressed microtubule-related genes using in vitro and in vivo SMA model systems.