Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.S2849G
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DSP

NM_004415.4:p.S2849G

Associated Papers

The desmoplakin tail domain position in the desmosomal plaque is isoform dependent.

Ainslie CM et al.

Journal of Cell Science, 2025

40785384 (PubMed )
Supplement: joces-138-263906_review_history.pdf

Genotype-Specific Outcomes of Desmosomal Cardiomyopathies.

Pergola V et al.

Circulation, 2025

PP2A-B55alpha controls keratinocyte adhesion through dephosphorylation of the Desmoplakin C-terminus.

Perl AL et al.

Scientific Reports, 2023

The desmoplakin-intermediate filament linkage regulates cell mechanics.

Broussard JA et al.

Molecular Biology of the Cell, 2017

GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.

Albrecht LV et al.

The Journal of Cell Biology, 2015

25733715 (PubMed )
Supplement: supp_jcb.201406020_JCB_201406020_sm.pdf

A desmoplakin point mutation with enhanced keratin association ameliorates pemphigus vulgaris autoantibody-mediated loss of cell cohesion.

Dehner C et al.

The American Journal of Pathology, 2014

The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling.

Hobbs RP et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011

Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly.

Bass-Zubek AE et al.

The Journal of Cell Biology, 2008

New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.

Lapouge K et al.

Journal of Cell Science, 2006

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