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Development of quantitative high-throughput screening assays to identify, validate, and optimize small-molecule stabilizers of misfolded β-glucocerebrosidase with therapeutic potential for Gaucher disease and Parkinson's disease.
Williams D, Glasstetter LM, Jong TT, Kapoor A, Zhu S, Zhu Y, Gehrlein A, Vocadlo DJ, Jagasia R, Marugan JJ, Sidransky E, Henderson MJ, Chen Y. Williams D, et al. Among authors: sidransky e. bioRxiv [Preprint]. 2024 Mar 27:2024.03.22.586364. doi: 10.1101/2024.03.22.586364. bioRxiv. 2024. PMID: 38712038 Free PMC article. Preprint.
Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct.
Gehrlein A, Udayar V, Anastasi N, Morella ML, Ruf I, Brugger D, von der Mark S, Thoma R, Rufer A, Heer D, Pfahler N, Jochner A, Niewoehner J, Wolf L, Fueth M, Ebeling M, Villaseñor R, Zhu Y, Deen MC, Shan X, Ehsaei Z, Taylor V, Sidransky E, Vocadlo DJ, Freskgård PO, Jagasia R. Gehrlein A, et al. Among authors: sidransky e. Nat Commun. 2023 Apr 12;14(1):2057. doi: 10.1038/s41467-023-37632-4. Nat Commun. 2023. PMID: 37045813 Free PMC article.
New tools can propel research in lysosomal storage diseases.
Hertz E, Glasstetter LM, Chen Y, Sidransky E. Hertz E, et al. Among authors: sidransky e. Mol Genet Metab. 2023 Dec;140(4):107729. doi: 10.1016/j.ymgme.2023.107729. Epub 2023 Nov 3. Mol Genet Metab. 2023. PMID: 37951057
Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism.
Hertz E, Perez G, Hao Y, Rytel K, Ma C, Kirby M, Anderson S, Wincovitch S, Andersh K, Ahfeldt T, Blanchard J, Andy Qi Y, Lopez G, Tayebi N, Sidransky E, Chen Y. Hertz E, et al. Among authors: sidransky e. bioRxiv [Preprint]. 2024 Feb 28:2024.02.25.581985. doi: 10.1101/2024.02.25.581985. bioRxiv. 2024. PMID: 38529501 Free PMC article. Preprint.
Neither alpha-synuclein-preformed fibrils derived from patients with GBA1 mutations nor the host murine genotype significantly influence seeding efficacy in the mouse olfactory bulb.
Walton S, Fenyi A, Tittle T, Sidransky E, Pal G, Choi S, Melki R, Killinger BA, Kordower JH. Walton S, et al. Among authors: sidransky e. bioRxiv [Preprint]. 2023 Aug 25:2023.08.24.554646. doi: 10.1101/2023.08.24.554646. bioRxiv. 2023. PMID: 37662402 Free PMC article. Preprint.
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu LY, Real R, Martinez-Carrasco A, Chia R, Lawton MA, Shoai M, Bresner C, Blauwendraat C, Singleton AB, Ryten M; International Lewy Body Dementia Genomics Consortium; Scholz SW, Traynor BJ, Williams NM, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Wu LY, et al. Brain Commun. 2024 May 31;6(4):fcae190. doi: 10.1093/braincomms/fcae190. eCollection 2024. Brain Commun. 2024. PMID: 38978726 Free PMC article.
296 results