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

Date
2006
Author
Yuksel-Apak, M
Sahin, SE
Dupont, E
Severs, NJ
Leigh, IM
Kelsell, DP
Uyguner, O
Wollnik, B
Uzumcu, A
Norgett, EE
Dindar, A
Nisli, K
Kayserili, H
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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.
URI
http://hdl.handle.net/20.500.12627/101709
https://doi.org/10.1136/jmg.2005.032904
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564645/pdf/e05.pdf
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