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

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

JOURNAL OF MEDICAL GENETICS, vol.43, no.2, 2006 (SCI-Expanded)

Publication Type: Article / Article
Volume: 43 Issue: 2
Publication Date: 2006
Doi Number: 10.1136/jmg.2005.032904
Journal Name: JOURNAL OF MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Istanbul University Affiliated: Yes

Abstract

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.