Mirya Leonidovna Kuranova

Institute of Cytology of the Russian Academy of Science, Russia, Saint Petersburg · Laboratory of radiation cytology

Cell mosaicism is found in biological systems much more often than clinically identified forms of the disease, in some cases, “erased forms” or “normal variants” are phenotypic manifestations of mosaicism. Some diseases, difficult for a clinical diagnosis, such as ataxia-telangiectasia, are based on cell mosaicism. This work is aimed to study DNA r...

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrat...

There have been described cellular and molecular features of patient having mosaic form of ataxia-teleangiectasia.

Rationale: Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease....

The effect of an extremely weak static magnetic field (EWSMF) was studied in diploid fibroblast strains that originated from a healthy donor and an ataxia–telangiectasia patient. Indirect immunofluorescence was used to detect p53, p53BP1, and p21. The pattern that occurred in donor cells exposed to EWSMF similar to that observed in DNA damage, viz....

Induced pluripotent stem cells (iPSCs) give the possibility for disease modeling, drug and toxicology screening and development of the new therapeutic approaches. Directed differentiation of iPSCs into specialized cell types represents a unique tool in order to study and model certain diseases, which affects specific type of cells, in vitro. One of...

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 autophosphorylat...

Ataxia-telangiectasia (AT) is a hereditary severe neurodegenerative disease developing, when mutations take place in both alleles of the atm gene, which encodes the key protein of the cellular response to DNA damage (DDR)--ATM proteinkinase. In response to the occurrence of double-strand DNA breaks, the ATM proteinkinase pass the autophosphorylatio...

Ataxia-telangiectasia (AT) is a severe hereditary neurodegenerative disease developing in the presence of mutations in both alleles of the gene atm. This gene encodes the key protein of cell response to DNA damage—ATM protein kinase. During the appearance of double-strand DNA breaks, the ATM protein kinase is autophosphorylated and its active form...

The influence of metabolic drug Cytoflavin (CF) with antihypoxic and antioxidative properties on human dermal fibroblasts in a model of ischemia-reoxygenation in vitro was studied. It was revealed that the restoration of ATP synthesis in fibroblasts in the postischemic period was considerably accelerated (in 2.1 times) by the addition of CF to the...

The effect of the metabolic drug Cytoflavin (CF) with antihypoxic and antioxidative properties on human dermal fibroblasts in the model of ischemia/reoxygenation in vitro was studied. It was revealed that, during the reoxygenation period after ischemia, the cell death rate in culture with CF appeared to be 2–2.7 times lower than in control cultures...