Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Sofya, Pchelina"'
Autor:
Jace Jones-Tabah, Kathy He, Nathan Karpilovsky, Konstantin Senkevich, Ghislaine Deyab, Isabella Pietrantonio, Thomas Goiran, Yuting Cousineau, Daria Nikanorova, Taylor Goldsmith, Esther del Cid Pellitero, Carol X.-Q. Chen, Wen Luo, Zhipeng You, Narges Abdian, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin-Baer, Roy N. Alcalay, Austen Milnerwood, Thomas M. Durcan, Ziv Gan-Or, Edward A. Fon
Publikováno v:
Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-21 (2024)
Abstract Background Variants in the CTSB gene encoding the lysosomal hydrolase cathepsin B (catB) are associated with increased risk of Parkinson’s disease (PD). However, neither the specific CTSB variants driving these associations nor the functio
Externí odkaz:
https://doaj.org/article/e2786b44f0ab42b995b54fb1787459cd
Autor:
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin-Baer, Roy N. Alcalay, Ziv Gan-Or
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-5 (2024)
Abstract Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson’s disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.0
Externí odkaz:
https://doaj.org/article/0ec195e276c84eb0a0914dc2c12af9bb
Autor:
Tatiana S. Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina
Publikováno v:
Journal of Integrative Neuroscience, Vol 23, Iss 1, p 16 (2024)
Background: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich repeat kinase 2 (LRRK2), respectively, are the most common related to Parkins
Externí odkaz:
https://doaj.org/article/fb400ae7883f4d0a87ec3b5710fb5f2b
Autor:
Tatiana Usenko, Anastasia Bezrukova, Katerina Basharova, Galina Baydakova, Elena Shagimardanova, Nataliya Blatt, Albert Rizvanov, Oleg Limankin, Maxim Novitskiy, Natalia Shnayder, Artem Izyumchenko, Mikhail Nikolaev, Anna Zabotina, Anna Lavrinova, Darya Kulabukhova, Regina Nasyrova, Ekaterina Palchikova, Natalia Zalutskaya, Irina Miliukhina, Yury Barbitoff, Oleg Glotov, Andrey Glotov, Anastasia Taraskina, Nikolai Neznanov, Ekaterina Zakharova, Sofya Pchelina
Publikováno v:
Metabolites, Vol 14, Iss 1, p 30 (2023)
Recent data described that patients with lysosomal storage disorders (LSDs) may have clinical schizophrenia (SCZ) features. Disruption of lipid metabolism in SCZ pathogenesis was found. Clinical features of schizophrenia (SCZ) have been demonstrated
Externí odkaz:
https://doaj.org/article/d60bfa87fec74cc9b69ac9bb1c5bcca9
Autor:
Tatiana Usenko, Valentina Miroshnikova, Anastasia Bezrukova, Katerina Basharova, Sergey Landa, Zoia Korobova, Natalia Liubimova, Ivan Vlasov, Mikhael Nikolaev, Artem Izyumchenko, Elena Gavrilova, Irina Shlyk, Elena Chernitskaya, Yurii Kovalchuk, Petr Slominsky, Areg Totolian, Yurii Polushin, Sofya Pchelina
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0278083 (2023)
Transcriptomic analysis conducted by us previously revealed upregulation of genes involved in low-density lipoprotein particle receptor (LDLR) activity pathway in lethal COVID-19 caused by SARS-CoV-2 virus (severe acute respiratory syndrome coronavir
Externí odkaz:
https://doaj.org/article/33470f5386c949e09f58c9053f6f67a8
Autor:
Tatiana, Shtam, Stanislav, Naryzhny, Darya, Kulabukhova, Luiza, Garaeva, Konstantin, Senkevich, Sergey, Landa, Elena, Varfolomeeva, Galina, Salogub, Nikolai, Verlov, Arthur, Kopylov, Elena, Zorina, Roman, Kamyshinsky, Tatiana, Usenko, Alexander, Schwarzman, Ekaterina, Zakharova, Anton, Emelyanov, Sofya, Pchelina
Publikováno v:
In European Journal of Medical Genetics November 2020 63(11)
Autor:
Anton Emelyanov, Tatiana Shtam, Roman Kamyshinsky, Luiza Garaeva, Nikolai Verlov, Irina Miliukhina, Anastasia Kudrevatykh, Gaspar Gavrilov, Yulia Zabrodskaya, Sofya Pchelina, Andrey Konevega
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0227949 (2020)
Extracellular vesicles (EVs) are membrane-enclosed vesicles which play important role for cell communication and physiology. EVs are found in many human biological fluids, including blood, breast milk, urine, cerebrospinal fluid (CSF), ejaculate, sal
Externí odkaz:
https://doaj.org/article/e57c9e341a0a49539a97afc31e5dfee5
Autor:
Ivan Vlasov, Alexandra Panteleeva, Tatiana Usenko, Mikhael Nikolaev, Artem Izumchenko, Elena Gavrilova, Irina Shlyk, Valentina Miroshnikova, Maria Shadrina, Yurii Polushin, Sofya Pchelina, Petr Slonimsky
Publikováno v:
Cells, Vol 10, Iss 12, p 3495 (2021)
To assess the biology of the lethal endpoint in patients with SARS-CoV-2 infection, we compared the transcriptional response to the virus in patients who survived or died during severe COVID-19. We applied gene expression profiling to generate transc
Externí odkaz:
https://doaj.org/article/6099a8d652994b62bfee72d9579b7bd3
Autor:
Konstantin Senkevich, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupre, Irina Miliukhina, Alla Timofeeva, Daria Kulabukhova, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin, Roy Alcalay, Ziv Gan-Or
Publikováno v:
Sunday, April 23.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c340621931c48668307d3ba0d6308d86
https://doi.org/10.1212/wnl.0000000000202466
https://doi.org/10.1212/wnl.0000000000202466
Autor:
Konstantin Senkevich, Mariia Beletskaia, Aliza Dworkind, Eric Yu, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Ilya Nagornov, Alexandr Tyurin, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Ekaterina Zakharova, Roy N. Alcalay, Sofya Pchelina, Ziv Gan-Or
Publikováno v:
medRxiv
BackgroundSeveral lysosomal genes are associated with Parkinson’s disease (PD), yet the association between PD andARSA, which encodes for the enzyme arylsulfatase A, remains controversial.ObjectivesTo evaluate the association between rareARSAvarian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9dba04a292b51a9409185c7ba1aacaa
https://europepmc.org/articles/PMC10055435/
https://europepmc.org/articles/PMC10055435/
