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Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Sofronova V, Iwata R, Moriya T, Loskutova K, Gurinova E, Chernova M, Timofeeva A, Shvedova A, Vasilev F, Novgorodova S, Terawaki S, Moriwaki T, Sukhomyasova A, Maksimova N, Otomo T. Sofronova V, et al. Among authors: timofeeva a. Int J Mol Sci. 2022 May 23;23(10):5851. doi: 10.3390/ijms23105851. Int J Mol Sci. 2022. PMID: 35628659 Free PMC article.
LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.
Usenko TS, Senkevich KA, Basharova KS, Bezrukova AI, Baydakova GV, Tyurin AA, Beletskaya MV, Kulabukhova DG, Grunina MN, Emelyanov AK, Miliukhina IV, Timofeeva AA, Zakharova EY, Pchelina SN. Usenko TS, et al. Among authors: timofeeva aa. Gene. 2023 Oct 5;882:147639. doi: 10.1016/j.gene.2023.147639. Epub 2023 Jul 18. Gene. 2023. PMID: 37473971
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J, He K, Senkevich K, Karpilovsky N, Deyab G, Cousineau Y, Nikanorova D, Goldsmith T, Del-Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Pietrantonio I, Goiran T, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupre N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, HassinBaer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Among authors: timofeeva a. Res Sq [Preprint]. 2024 Mar 19:rs.3.rs-3979098. doi: 10.21203/rs.3.rs-3979098/v1. Res Sq. 2024. PMID: 38562709 Free PMC article. Preprint.
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
Usenko TS, Timofeeva A, Beletskaia M, Basharova K, Baydakova G, Bezrukova A, Grunina M, Emelyanov A, Miliukhina I, Zakharova E, Pchelina S. Usenko TS, et al. Among authors: timofeeva a. J Integr Neurosci. 2024 Jan 16;23(1):16. doi: 10.31083/j.jin2301016. J Integr Neurosci. 2024. PMID: 38287861 Free article.
167 results