Research output: Contribution to journal › Article › peer-review
Влияние мутаций в гене плакофиллина-2 на активность канонического пути Wnt. / Khudiakov, A. A.; Kostina, D. A.; Kostareva, A. A.; Tomilin, A. N.; Malashicheva, A. B.
In: Цитология, Vol. 57, No. 12, 01.01.2015, p. 868-875.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - Влияние мутаций в гене плакофиллина-2 на активность канонического пути Wnt.
AU - Khudiakov, A. A.
AU - Kostina, D. A.
AU - Kostareva, A. A.
AU - Tomilin, A. N.
AU - Malashicheva, A. B.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - Plakophilin-2 is a desmosomal protein encoded by PKP2 gene. Desmosomal proteins are usually considered as structural proteins with the main function of maintaining intercellular interactions. Genetic studies revealed that mutations in desmosomal genes could lead to arrhythmogenic right ventricular cardiomyopathy, heart disease characterized by substitution of cardiomyocytes by adipose and fibrotic tissue predominantly in right ventricle. Wnt signaling pathway is one of the signal transduction pathways which could be involved in the formation of the pathology. The purpose of this study was to investigate Wnt activity changes caused by PKP2 mutations during adipogenic and cardiomyogenic differentiation. We used multipotent mesenchymal stromal cells and iPS cells generated from patient carrying PKP2 gene mutation. We show that Wnt activity is lower in the cells with mutant PKP2. This data indicate a possible signaling role of plakophilin-2 by regulating Wnt activity.
AB - Plakophilin-2 is a desmosomal protein encoded by PKP2 gene. Desmosomal proteins are usually considered as structural proteins with the main function of maintaining intercellular interactions. Genetic studies revealed that mutations in desmosomal genes could lead to arrhythmogenic right ventricular cardiomyopathy, heart disease characterized by substitution of cardiomyocytes by adipose and fibrotic tissue predominantly in right ventricle. Wnt signaling pathway is one of the signal transduction pathways which could be involved in the formation of the pathology. The purpose of this study was to investigate Wnt activity changes caused by PKP2 mutations during adipogenic and cardiomyogenic differentiation. We used multipotent mesenchymal stromal cells and iPS cells generated from patient carrying PKP2 gene mutation. We show that Wnt activity is lower in the cells with mutant PKP2. This data indicate a possible signaling role of plakophilin-2 by regulating Wnt activity.
UR - http://www.scopus.com/inward/record.url?scp=84983678513&partnerID=8YFLogxK
M3 - статья
C2 - 26995964
VL - 57
SP - 868
EP - 875
JO - Цитология
JF - Цитология
SN - 0041-3771
IS - 12
ER -
ID: 5804643