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Mosaic forms of ataxia telangiectasia. / Kuranova, M.L.; Pleskach, N.M.; Ledashcheva, T.A.; Mikhelson, V.M.; Spivak, I.M.

в: Cell and Tissue Biology, Том 9, № 1, 2015, стр. 53-63.

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

Harvard

Kuranova, ML, Pleskach, NM, Ledashcheva, TA, Mikhelson, VM & Spivak, IM 2015, 'Mosaic forms of ataxia telangiectasia', Cell and Tissue Biology, Том. 9, № 1, стр. 53-63. https://doi.org/10.1134/S1990519X15010058

APA

Kuranova, M. L., Pleskach, N. M., Ledashcheva, T. A., Mikhelson, V. M., & Spivak, I. M. (2015). Mosaic forms of ataxia telangiectasia. Cell and Tissue Biology, 9(1), 53-63. https://doi.org/10.1134/S1990519X15010058

Vancouver

Kuranova ML, Pleskach NM, Ledashcheva TA, Mikhelson VM, Spivak IM. Mosaic forms of ataxia telangiectasia. Cell and Tissue Biology. 2015;9(1):53-63. https://doi.org/10.1134/S1990519X15010058

Author

Kuranova, M.L. ; Pleskach, N.M. ; Ledashcheva, T.A. ; Mikhelson, V.M. ; Spivak, I.M. / Mosaic forms of ataxia telangiectasia. в: Cell and Tissue Biology. 2015 ; Том 9, № 1. стр. 53-63.

BibTeX

@article{b7e46e320a024b30a7c6291bfceeb9f4,
title = "Mosaic forms of ataxia telangiectasia",
abstract = "{\textcopyright} 2015, Pleiades Publishing, Ltd. Ataxia telangiectasia (AT) is a severe hereditary autosomal recessive neurodegenerative disease associated with accelerated aging and caused by mutation in both alleles of the atm gene. This gene encodes a key protein of cell response to DNA damage—the ATM protein kinase. Normally, upon formation of DNA double strand breaks, ATM is autophosphorylated and its active form phospho-ATM (P-ATM) appears. Here, we describe a mosaic form of AT in which cells of the same patient with a normal atm gene exhibited the accumulation of P-ATM in response to DNA double-strand breaks-inducing factors whereas, in cells bearing a mutant form of atm, P-ATM was not detected. Epigenetic markers, such as the histone deacetylases SIRT1 and SIRT6, and trimethylated forms of histone H3, H3K9me3 and H3K27me3, were studied in the nuclei of primary fibroblasts derived from patients with different forms of AT, and an increase in the SIRT6 level was revealed.",
author = "M.L. Kuranova and N.M. Pleskach and T.A. Ledashcheva and V.M. Mikhelson and I.M. Spivak",
year = "2015",
doi = "10.1134/S1990519X15010058",
language = "English",
volume = "9",
pages = "53--63",
journal = "Cell and Tissue Biology",
issn = "1990-519X",
publisher = "МАИК {"}Наука/Интерпериодика{"}",
number = "1",

}

RIS

TY - JOUR

T1 - Mosaic forms of ataxia telangiectasia

AU - Kuranova, M.L.

AU - Pleskach, N.M.

AU - Ledashcheva, T.A.

AU - Mikhelson, V.M.

AU - Spivak, I.M.

PY - 2015

Y1 - 2015

N2 - © 2015, Pleiades Publishing, Ltd. Ataxia telangiectasia (AT) is a severe hereditary autosomal recessive neurodegenerative disease associated with accelerated aging and caused by mutation in both alleles of the atm gene. This gene encodes a key protein of cell response to DNA damage—the ATM protein kinase. Normally, upon formation of DNA double strand breaks, ATM is autophosphorylated and its active form phospho-ATM (P-ATM) appears. Here, we describe a mosaic form of AT in which cells of the same patient with a normal atm gene exhibited the accumulation of P-ATM in response to DNA double-strand breaks-inducing factors whereas, in cells bearing a mutant form of atm, P-ATM was not detected. Epigenetic markers, such as the histone deacetylases SIRT1 and SIRT6, and trimethylated forms of histone H3, H3K9me3 and H3K27me3, were studied in the nuclei of primary fibroblasts derived from patients with different forms of AT, and an increase in the SIRT6 level was revealed.

AB - © 2015, Pleiades Publishing, Ltd. Ataxia telangiectasia (AT) is a severe hereditary autosomal recessive neurodegenerative disease associated with accelerated aging and caused by mutation in both alleles of the atm gene. This gene encodes a key protein of cell response to DNA damage—the ATM protein kinase. Normally, upon formation of DNA double strand breaks, ATM is autophosphorylated and its active form phospho-ATM (P-ATM) appears. Here, we describe a mosaic form of AT in which cells of the same patient with a normal atm gene exhibited the accumulation of P-ATM in response to DNA double-strand breaks-inducing factors whereas, in cells bearing a mutant form of atm, P-ATM was not detected. Epigenetic markers, such as the histone deacetylases SIRT1 and SIRT6, and trimethylated forms of histone H3, H3K9me3 and H3K27me3, were studied in the nuclei of primary fibroblasts derived from patients with different forms of AT, and an increase in the SIRT6 level was revealed.

U2 - 10.1134/S1990519X15010058

DO - 10.1134/S1990519X15010058

M3 - Article

VL - 9

SP - 53

EP - 63

JO - Cell and Tissue Biology

JF - Cell and Tissue Biology

SN - 1990-519X

IS - 1

ER -

ID: 4007111