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

Uzumcu, A; Norgett, EE; Dindar, A; Uyguner, ZEHRA; Nisli, K; Kayserili, H; Sahin, SE; Dupont, E; Severs, NJ; Leigh, IM; Yuksel-Apak, M; Kelsell, DP; Wollnik, B

doi:10.1136/jmg.2005.032904

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, sa.2, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 43 Sayı: 2
Basım Tarihi: 2006
Doi Numarası: 10.1136/jmg.2005.032904
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
İstanbul Üniversitesi Adresli: Evet

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.