Tatiana V. Egorova

Tatiana V. Egorova
Russian Academy of Sciences | RAS · Institute of Gene Biology

About

28
Publications
3,730
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83
Citations
Additional affiliations
August 2015 - September 2016
Russian Academy of Sciences
Position
  • Researcher

Publications

Publications (28)
Article
Full-text available
Disease-causing genes have been identified for many severe muscular and neurological genetic disorders. Advances in the gene therapy field offer promising solutions for drug development to treat these life-threatening conditions. Depending on how the mutation affects the function of the gene product, different gene therapy approaches may be benefic...
Article
Full-text available
Adeno-associated virus (AAV) vectors have become an attractive tool for efficient gene transfer into animal tissues. Extensively studied as the vehicles for therapeutic constructs in gene therapy, AAVs are also applied for creating animal models of human genetic disorders. Neurological disorders are challenging to model in laboratory animals by tra...
Article
Full-text available
GNAO1 encephalopathy is an orphan genetic disease associated with early infantile epilepsy, impaired motor control, and severe developmental delay. The disorder is caused by mutations in the GNAO1 gene, leading to dysfunction of the encoded protein Gαo1. There is no cure for this disease, and symptomatic therapy is ineffective. Phenotypic heterogen...
Article
Full-text available
High expectations have been set on gene therapy with an AAV-delivered shortened version of dystrophin (µDys) for Duchenne muscular dystrophy (DMD), with several drug candidates currently undergoing clinical trials. Safety concerns with this therapeutic approach include the immune response to introduced dystrophin antigens observed in some DMD patie...
Article
Full-text available
Recombinant adeno-associated viral vectors (rAAV) represent a gene therapy tool of ever-increasing importance. Their utilization as a delivery vehicle for gene replacement, silencing and editing, among other purposes, demonstrate considerable versatility. Emerging vector utilization in various experimental, preclinical and clinical applications est...
Conference Paper
Full-text available
Our study presents the characterization of five recombinant adeno-associated virus serotypes by tropism to Gαo-positive cells and toxicity in primary neuronal culture. We demonstrated that AAV-DJ has the highest potential as a gene delivery vehicle to Gαo-positive cells. AAV-DJ was successfully tested in vitro as a vector for two possible gene ther...
Article
Full-text available
The CRISPR/Cas9 gene editing technology is a powerful tool for correcting mutations in the DMD gene and holds a great promise for treatment of Duchenne muscular dystrophy. The development of CRISPR- based therapy needs to be tailored to patients’ underlying mutations. Previously, we created a mouse model of Duchenne muscular dystrophy (DmdDel8-34)...
Article
Full-text available
Many genetic diseases that are responsible for muscular disorders have been described to date. Gene replacement therapy is a state-of-the-art strategy used to treat such diseases. In this approach, the functional copy of a gene is delivered to the affected tissues using viral vectors. There is an urgent need for the design of short, regulatory sequ...
Chapter
Full-text available
Duchenne muscular dystrophy is a complex and severe orphan disease. It develops when the organism lacks the expression of dystrophin - a large structural protein. Dystrophin is transcribed from the largest gene in the human genome. At the moment, there is no cure available. Dozens of groups all over the world search for cure. Animal models are an i...
Conference Paper
Full-text available
The GNAO1 gene is expressed primarily in the central nervous system and encodes the alpha subunit of the G-protein (Gαo1). GNAO1-associated encephalopathy is a monogenic orphan disease caused by de novo mutations in the GNAO1. Clinical missense variant c.607G>A is one of the most frequent mutations of GNAO1 that causes infantile epilepsy and moveme...
Conference Paper
Full-text available
GNAO1 gene encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (Gαo1). The protein is highly expressed in the brain and involved in neurotransmission. The clinical variant GNAO1 c.607G>A is a mutation hotspot and associated with early infantile epileptic encephalopathy and movement disorders. In a cell-based assay c.6...
Article
Full-text available
AAV-delivered microdystrophin genes hold great promise for Duchenne muscular dystrophy (DMD) treatment. It is anticipated that the optimization of engineered dystrophin genes will be required to increase the efficacy and reduce the immunogenicity of transgenic proteins. An in vitro system is required for the efficacy testing of genetically engineer...
Poster
Full-text available
Mutations in GNAO1 were recently linked to a fatal neurodevelopmental disease characterized by infantile epilepsy and movement disorder. GNAO1 encodes Gαo protein that is highly abundant in the brain and involved in signal transmission between neurons. At least some heterozygous mutations in GNAO1 result in toxic gain-of-function and lead to disrup...
Article
Full-text available
Duchenne muscular dystrophy is the most common type of muscular dystrophy. There is no effective cure for this disease. Recently, researchers have started to look at the therapeutic potential of exosomes — small (40–100 nm) vesicles secreted by cells into the extracellular environment. They transport a few types of macromolecules, including microRN...
Poster
Full-text available
GNAO1 disorder is a fatal genetic neurodevelopmental disease characterized by epilepsy and movement impairment that begins in early infancy. GNAO1 gene is highly expressed in the brain and certain de novo mutations in this gene result in production of toxic protein that causes dysregulation in neuronal signaling. Currently no effective treatment is...
Article
Full-text available
Exon skipping is a promising strategy for Duchenne muscular dystrophy (DMD) disease-modifying therapy. To make this approach safe, ensuring that excluding one or more exons will restore the reading frame and that the resulting protein will retain critical functions of the full-length dystrophin protein is necessary. However, in vivo testing of the...
Article
Full-text available
Successful disease prevention and therapy critically depend on timely diagnosis of infections. Quantitative immuno-PCR (qiPCR) technology improves the sensitivity in the detection of antibodies to pathogens. A qiPCR-based assay was developed to determine IgG antibodies to Epstein-Barr virus (EBV) in the human blood serum. EBV nuclear protein 1 frag...
Article
Full-text available
Diadenosine polyphosphates have been shown to inhibit neutrophil apoptosis, but mechanisms of the antiapoptotic effect are not known. Diadenosine diphosphate (Ap2A) is the simplest naturally occurring diadenosine polyphosphate, and its effect on neutrophil apoptosis has not previously been investigated. Here we report that Ap2A delays spontaneous a...
Article
A novel plant hairpin-like defense polypeptide named EcAMP3 was isolated from latent barnyard grass (Ehinochloa crusgalli L.) seeds. The native peptide and its recombinant analogue were characterized. EcAMP3 displays antifungal and antibacterial activity in vitro. The gene family encoding EcAMPs precursor protein was also characterized; the genes a...

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