Výsledky vyhledávání - "A E, Kopytova"

Akademický článek

Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers

Autor: Anton K. Emelyanov, Tatiana S. Usenko, Alena E. Kopytova, Irina V. Miliukhina, Alla A. Timofeeva, Anastasia I. Bezrukova, Darya G. Kulabukhova, Galina V. Baydakova, Mikhail A. Nikolaev, Anna O. Lavrinova, Anastasia V. Kudrevatykh, Alexander S. Zhuravlev, Ekaterina Yu. Zakharova, Sofya N. Pchelina

Publikováno v: Анналы клинической и экспериментальной неврологии, Vol 18, Iss 3, Pp 50-57 (2024)

Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in

Externí odkaz: https://doaj.org/article/32b215ee5ae443709ab7eb04cf520f45

Zobrazit plný text záznamu

Akademický článek

Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Disease

Autor: Alena E. Kopytova, George N. Rychkov, Alexander A. Cheblokov, Elena V. Grigor’eva, Mikhail A. Nikolaev, Elena S. Yarkova, Diana A. Sorogina, Farid M. Ibatullin, Galina V. Baydakova, Artem D. Izyumchenko, Daria A. Bogdanova, Vitali M. Boitsov, Akim V. Rybakov, Irina V. Miliukhina, Vadim A. Bezrukikh, Galina N. Salogub, Ekaterina Y. Zakharova, Sofya N. Pchelina, Anton K. Emelyanov

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 10, p 9105 (2023)

Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for Parkinson’s disease (PD). Pharmacological chaperones (PCs) are being developed as an al

Externí odkaz: https://doaj.org/article/a540faae94864a4a873d0bc05f379f47

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease

Autor: Elena V. Grigor’eva, Alena E. Kopytova, Elena S. Yarkova, Sophia V. Pavlova, Diana A. Sorogina, Anastasia A. Malakhova, Tuyana B. Malankhanova, Galina V. Baydakova, Ekaterina Y. Zakharova, Sergey P. Medvedev, Sofia N. Pchelina, Suren M. Zakian

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 5, p 4437 (2023)

GBA variants increase the risk of Parkinson’s disease (PD) by 10 times. The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase). The p.N370S substitution causes a violation of the enzyme conformation, which affects its stability in the

Externí odkaz: https://doaj.org/article/365091594fc848809889675d20533582

Zobrazit plný text záznamu

Plný text ve formátu HTML

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease

Autor: A E Kopytova, A A Panteleeva, T.S. Usenko, Anastasia Bezrukova, M.A. Nikolaev, A. Emelyanov, Ekaterina Zakharova, Katerina Basharova, Irina Miliukhina, S.N. Pchelina

Publikováno v: Genes
Genes, Vol 12, Iss 1545, p 1545 (2021)
Volume 12
Issue 10

Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson’s disease (PD) with frequency between 5% and 20% across the world. N370S and L444P are the two most common mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add4b25dc7b07c7ced8521df725ba68a
http://europepmc.org/articles/PMC8535749

Zobrazit plný text záznamu

Human Peripheral Blood Macrophages As a Model for Studying Glucocerebrosidase Dysfunction

Autor: G.N. Salogub, M. V. Gorchakova, T. S. Usenko, E Yu Zakharova, M. A. Nikolaev, Yu. P. Koval’chuk, S. N. Pchelina, K. A. Senkevich, A E Kopytova, O. Berkovich, G. V. Baidakova, A. K. Emel’yanov

Publikováno v: Cell and Tissue Biology. 13:100-106

Decreased activity of glucocerebrosidase (GCase) as a result of mutations in the GBA gene causes Gaucher’s disease (GD), which belongs to the group of lysosomal storage disorders. The risk of Parkinson’s disease in homo- and heterozygous carriers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::845cbaa52ed170426a60d3a1c9b38109
https://doi.org/10.1134/s1990519x19020081

Zobrazit plný text záznamu

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations

Autor: Galina Baydakova, A E Kopytova, Irina Miliukhina, Ekatrina Fedotova, Ekaterina Yur'evna Zakharova, A. F. Yakimovskii, Mikhael Nikolaev, Sergey N. Illarioshkin, S.N. Pchelina, A. Emelyanov, A A Timofeeva, Konstantin Senkevich, O. Berkovich

Publikováno v: Movement Disorders. 33:1325-1330

INTRODUCTION Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased glucocerebrosidase enzymatic activity in PD patients with glucocerebrosidase 1 mutations (glucocerebrosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::76b69a16c59a3482f638ba48ff78b8a9
https://doi.org/10.1002/mds.27393

Zobrazit plný text záznamu

ITLN1, PPARg AND TNFa GENE EXPRESSION IN VISCERAL ADIPOSE TISSUE

Autor: T S, Usenko, V V, Miroshnikova, E A, Bazhenova, M A, Nikolaev, D L, Brovin, A E, Kopytova, A A, Panteleeva, J, He, I A, Semenova, N D, Razgildina, A E, Neimark, O A, Berkovich, O D, Belyaeva, E I, Baranova, S N, Pchelina

Publikováno v: Tsitologiia. 59(1)

The adipose tissue is considered today as an endocrine organ in which tissue-specific regulation of gene expression plays a key role in the processes of development of obesity and comorbidities, such as diabetes and cardiovascular disease. The presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8a351bb356b32b17954b3db608b03c62
https://pubmed.ncbi.nlm.nih.gov/30188100

Zobrazit plný text záznamu

SNCA variants and alpha-synuclein level in CD45+ blood cells in Parkinson's disease

Autor: I. Milyukhina, A. Ilves, E. Verbitskaya, L. N. Prakhova, D. Kulabukhova, A. Emelyanov, L. Garaeva, A. F. Yakimovskii, A E Kopytova, S.N. Pchelina, P. Andoskin, I. Vlasova, Konstantin Senkevich, M.A. Nikolaev, A A Timofeeva

Publikováno v: Journal of the neurological sciences. 395

Parkinson's disease (PD) is the second most frequent neurodegenerative disorder. Impaired metabolism of alpha-synuclein (SNCA) and its aggregation are implicated in PD pathogenesis. SNCA has been identified as a highly significant genetic risk loci a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8025ecf4fa567e05d0f30f49f291036f
https://pubmed.ncbi.nlm.nih.gov/30316070

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání