Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alla, Timofeeva"'
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:
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/
Autor:
Sofya, Pchelina, Galina, Baydakova, Mikhael, Nikolaev, Konstantin, Senkevich, Anton, Emelyanov, Alena, Kopytova, Irina, Miliukhina, Andrey, Yakimovskii, Alla, Timofeeva, Olga, Berkovich, Ekatrina, Fedotova, Sergey, Illarioshkin, Ekaterina, Zakharova
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 33(8)
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 (glucocerebrosidase 1-PD). H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0447ae74afff462e9d1ff8965cc1fa94
https://pubmed.ncbi.nlm.nih.gov/30192031
https://pubmed.ncbi.nlm.nih.gov/30192031