Loss of Desmoplakin Tail Causes Lethal Acantholytic Epidermolysis Bullosa*

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Elizabeth E. Norgett · Human Molecular Genetics · 2000 · 809 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy

Alessandra Rampazzo, Andrea Nava, Sandro Malacrida et al. · The American Journal of Human Genetics · 2002 · 664 citations · Full text

Medicine, Cardiology, Genetics +7

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

John A. McGrath, James R. McMillan, Carrie S. Shemanko et al. · Nature Genetics · 1997 · 374 citations

Life Sciences, Genetics, Molecular Genetics +14

Desmoplakin Is Required Early in Development for Assembly of Desmosomes and Cytoskeletal Linkage

G. Ian Gallicano, Panos Kouklis, Christoph Bauer et al. · The Journal of Cell Biology · 1998 · 336 citations · Full text

Life Sciences, Cell Biology, Developmental Biology +16

Desmoplakin is essential in epidermal sheet formation

Valeri Vasioukhin, Ethan Bowers, Christoph Bauer et al. · Nature Cell Biology · 2001 · 308 citations

Life Sciences, Pathology, Cytoskeleton +8