Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome


Uzumcu A., Norgett E., Dindar A., Uyguner O. , Nisli K., Kayserili H., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.43, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 43 Konu: 2
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1136/jmg.2005.032904
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS

Özet

Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament ( IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing.