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The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling. / Khudiakov, A. A.; Kostina, D. A.; Kostareva, A. A.; Tomilin, A. N.; Malashicheva, A. B.

в: Cell and Tissue Biology, Том 10, № 2, 01.03.2016, стр. 106-113.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

Harvard

Khudiakov, AA, Kostina, DA, Kostareva, AA, Tomilin, AN & Malashicheva, AB 2016, 'The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling', Cell and Tissue Biology, Том. 10, № 2, стр. 106-113. https://doi.org/10.1134/S1990519X16020061

APA

Khudiakov, A. A., Kostina, D. A., Kostareva, A. A., Tomilin, A. N., & Malashicheva, A. B. (2016). The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling. Cell and Tissue Biology, 10(2), 106-113. https://doi.org/10.1134/S1990519X16020061

Vancouver

Khudiakov AA, Kostina DA, Kostareva AA, Tomilin AN, Malashicheva AB. The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling. Cell and Tissue Biology. 2016 Март 1;10(2):106-113. https://doi.org/10.1134/S1990519X16020061

Author

Khudiakov, A. A. ; Kostina, D. A. ; Kostareva, A. A. ; Tomilin, A. N. ; Malashicheva, A. B. / The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling. в: Cell and Tissue Biology. 2016 ; Том 10, № 2. стр. 106-113.

BibTeX

@article{2cd9954d548946eba8f05043e4e01faf,
title = "The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling",
abstract = "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, a heart disease characterized by substitution of cardiomyocytes by adipose and fibrotic tissue predominantly in the right ventricle. Wnt signaling is a signal transduction pathway presumably involved in the development of pathology. The purpose of this study was to investigate Wnt activity in cells with wild-type and mutant PKP2 gene during adipogenic and cardiomyogenic differentiation. We used multipotent mesenchymal stromal cells and iPS cells generated from a patient carrying PKP2 gene mutation. We found that cells with mutant PKP2 exhibited lower transcriptional activity of β-catenin, a key player of Wnt signaling, as well as attenuated expression of its targets SOX2 and SOX9. These findings suggest a signaling role of plakophilin2 by regulating Wnt activity",
keywords = "mutations, plakophillin, Wnt signaling",
author = "Khudiakov, {A. A.} and Kostina, {D. A.} and Kostareva, {A. A.} and Tomilin, {A. N.} and Malashicheva, {A. B.}",
year = "2016",
month = mar,
day = "1",
doi = "10.1134/S1990519X16020061",
language = "English",
volume = "10",
pages = "106--113",
journal = "Cell and Tissue Biology",
issn = "1990-519X",
publisher = "МАИК {"}Наука/Интерпериодика{"}",
number = "2",

}

RIS

TY - JOUR

T1 - The effect of plakophilin-2 gene mutations on the activity of canonical WNT signaling

AU - Khudiakov, A. A.

AU - Kostina, D. A.

AU - Kostareva, A. A.

AU - Tomilin, A. N.

AU - Malashicheva, A. B.

PY - 2016/3/1

Y1 - 2016/3/1

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, a heart disease characterized by substitution of cardiomyocytes by adipose and fibrotic tissue predominantly in the right ventricle. Wnt signaling is a signal transduction pathway presumably involved in the development of pathology. The purpose of this study was to investigate Wnt activity in cells with wild-type and mutant PKP2 gene during adipogenic and cardiomyogenic differentiation. We used multipotent mesenchymal stromal cells and iPS cells generated from a patient carrying PKP2 gene mutation. We found that cells with mutant PKP2 exhibited lower transcriptional activity of β-catenin, a key player of Wnt signaling, as well as attenuated expression of its targets SOX2 and SOX9. These findings suggest a signaling role of plakophilin2 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, a heart disease characterized by substitution of cardiomyocytes by adipose and fibrotic tissue predominantly in the right ventricle. Wnt signaling is a signal transduction pathway presumably involved in the development of pathology. The purpose of this study was to investigate Wnt activity in cells with wild-type and mutant PKP2 gene during adipogenic and cardiomyogenic differentiation. We used multipotent mesenchymal stromal cells and iPS cells generated from a patient carrying PKP2 gene mutation. We found that cells with mutant PKP2 exhibited lower transcriptional activity of β-catenin, a key player of Wnt signaling, as well as attenuated expression of its targets SOX2 and SOX9. These findings suggest a signaling role of plakophilin2 by regulating Wnt activity

KW - mutations

KW - plakophillin

KW - Wnt signaling

UR - http://www.scopus.com/inward/record.url?scp=84984839664&partnerID=8YFLogxK

U2 - 10.1134/S1990519X16020061

DO - 10.1134/S1990519X16020061

M3 - Article

AN - SCOPUS:84984839664

VL - 10

SP - 106

EP - 113

JO - Cell and Tissue Biology

JF - Cell and Tissue Biology

SN - 1990-519X

IS - 2

ER -

ID: 35807357