Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler

2019 ◽  
Vol 36 (2) ◽  
pp. 255-257
Author(s):  
Vishal Gupta ◽  
Vinod K. Sharma
Keyword(s):  
Palmoplantar Keratoderma ◽  
Skin Fragility ◽  
Woolly Hair

scholarly journals Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy

2015 ◽  
Vol 95 (3) ◽  
pp. 337-340 ◽  
Author(s):  
M Pigors ◽  
A Schwieger-Briel ◽  
R Cosgarea ◽  
A Diaconeasa ◽  
L Bruckner-Tuderman ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Woolly Hair

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

2011 ◽  
Vol 166 (4) ◽  
pp. 894-896 ◽  
Author(s):  
F.J.D. Smith ◽  
N.J. Wilson ◽  
C. Moss ◽  
P. Dopping-Hepenstal ◽  
J. McGrath
Keyword(s):  
Compound Heterozygous ◽  
Skin Fragility ◽  
Woolly Hair ◽  
Compound Heterozygous Mutations

scholarly journals Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin–EB1 interactions

2014 ◽  
Vol 206 (6) ◽  
pp. 779-797 ◽  
Author(s):  
Dipal M. Patel ◽  
Adi D. Dubash ◽  
Geri Kreitzer ◽  
Kathleen J. Green
Keyword(s):  
Gap Junction ◽  
Cell Contact ◽  
Membrane Targeting ◽  
Microtubule Organization ◽  
Disease Mutations ◽  
Skin Fragility ◽  
Woolly Hair ◽  
And Function ◽  
Desmosomal Protein ◽  
Cell Cell

Mechanisms by which microtubule plus ends interact with regions of cell–cell contact during tissue development and morphogenesis are not fully understood. We characterize a previously unreported interaction between the microtubule binding protein end-binding 1 (EB1) and the desmosomal protein desmoplakin (DP), and demonstrate that DP–EB1 interactions enable DP to modify microtubule organization and dynamics near sites of cell–cell contact. EB1 interacts with a region of the DP N terminus containing a hotspot for pathogenic mutations associated with arrhythmogenic cardiomyopathy (AC). We show that a subset of AC mutations, in addition to a mutation associated with skin fragility/woolly hair syndrome, impair gap junction localization and function by misregulating DP–EB1 interactions and altering microtubule dynamics. This work identifies a novel function for a desmosomal protein in regulating microtubules that affect membrane targeting of gap junction components, and elucidates a mechanism by which DP mutations may contribute to the development of cardiac and cutaneous diseases.

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