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

Creative Commons License

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

JOURNAL OF PEDIATRIC RESEARCH, vol.6, no.2, pp.148-154, 2019 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.4274/jpr.galenos.2019.71473
  • Journal Name: JOURNAL OF PEDIATRIC RESEARCH
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.148-154
  • Keywords: Spinal muscular atrophy, exon-array, microtubule-associated protein 2, MOUSE MODEL, SMN, NORMALIZATION, METAANALYSIS, DEFECTS, PATHWAY, GROWTH
  • Hacettepe University Affiliated: Yes

Abstract

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.