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- W4200262077 abstract "Dysfunctions in the endo-lysosomal system have been hypothesized to underlie neurodegeneration in major neurocognitive disorders due to Alzheimer's disease (AD), Frontotemporal Lobar Degeneration (FTLD), and Lewy body disease (DLB). The aim of this study is to investigate whether these diseases share genetic variability in the endo-lysosomal pathway. In AD, DLB, and FTLD patients and in controls (948 subjects), we performed a targeted sequencing of the top 50 genes belonging to the endo-lysosomal pathway. Genetic analyses revealed (i) four previously reported disease-associated variants in the SORL1 (p.N1246K, p.N371T, p.D2065V) and DNAJC6 genes (p.M133L) in AD, FTLD, and DLB, extending the previous knowledge attesting SORL1 and DNAJC6 as AD- and PD-related genes, respectively; (ii) three predicted null variants in AD patients in the SORL1 (p.R985X in early onset familial AD, p.R1207X) and PPT1 (p.R48X in early onset familial AD) genes, where loss of function is a known disease mechanism. A single variant and gene burden analysis revealed some nominally significant results of potential interest for SORL1 and DNAJC6 genes. Our data highlight that genes controlling key endo-lysosomal processes (i.e., protein sorting/transport, clathrin-coated vesicle uncoating, lysosomal enzymatic activity regulation) might be involved in AD, FTLD and DLB pathogenesis, thus suggesting an etiological link behind these diseases." @default.
- W4200262077 created "2021-12-31" @default.
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- W4200262077 date "2021-12-20" @default.
- W4200262077 modified "2023-09-25" @default.
- W4200262077 title "Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer’s Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene" @default.
- W4200262077 cites W1897859562 @default.
- W4200262077 cites W1970082506 @default.
- W4200262077 cites W1973752139 @default.
- W4200262077 cites W1976935963 @default.
- W4200262077 cites W1984544042 @default.
- W4200262077 cites W1991309644 @default.
- W4200262077 cites W1992352812 @default.
- W4200262077 cites W1994901530 @default.
- W4200262077 cites W2020427316 @default.
- W4200262077 cites W2026683417 @default.
- W4200262077 cites W2037558767 @default.
- W4200262077 cites W2039756269 @default.
- W4200262077 cites W2043986690 @default.
- W4200262077 cites W2051978340 @default.
- W4200262077 cites W2055063567 @default.
- W4200262077 cites W2058880763 @default.
- W4200262077 cites W2064746087 @default.
- W4200262077 cites W2072870250 @default.
- W4200262077 cites W2077809468 @default.
- W4200262077 cites W2089824407 @default.
- W4200262077 cites W2103818266 @default.
- W4200262077 cites W2112329697 @default.
- W4200262077 cites W2115017507 @default.
- W4200262077 cites W2119180969 @default.
- W4200262077 cites W2121349242 @default.
- W4200262077 cites W2121519777 @default.
- W4200262077 cites W2128030851 @default.
- W4200262077 cites W2131409719 @default.
- W4200262077 cites W2132040133 @default.
- W4200262077 cites W2134318672 @default.
- W4200262077 cites W2136513422 @default.
- W4200262077 cites W2138190873 @default.
- W4200262077 cites W2142545021 @default.
- W4200262077 cites W2152748843 @default.
- W4200262077 cites W2156220037 @default.
- W4200262077 cites W2164373312 @default.
- W4200262077 cites W2168656450 @default.
- W4200262077 cites W2176146180 @default.
- W4200262077 cites W2224648196 @default.
- W4200262077 cites W2304886140 @default.
- W4200262077 cites W2307896283 @default.
- W4200262077 cites W2325841306 @default.
- W4200262077 cites W2341088037 @default.
- W4200262077 cites W2418002327 @default.
- W4200262077 cites W2559478663 @default.
- W4200262077 cites W2623521763 @default.
- W4200262077 cites W2763924102 @default.
- W4200262077 cites W2773276313 @default.
- W4200262077 cites W2774357023 @default.
- W4200262077 cites W2790644409 @default.
- W4200262077 cites W2889370452 @default.
- W4200262077 cites W2898150299 @default.
- W4200262077 cites W2898363803 @default.
- W4200262077 cites W2921105624 @default.
- W4200262077 cites W2941381527 @default.
- W4200262077 cites W2953216035 @default.
- W4200262077 cites W2961272975 @default.
- W4200262077 cites W2967833219 @default.
- W4200262077 cites W2972112521 @default.
- W4200262077 cites W2998134687 @default.
- W4200262077 cites W3007306960 @default.
- W4200262077 cites W3014729659 @default.
- W4200262077 cites W3023865131 @default.
- W4200262077 cites W3046504080 @default.
- W4200262077 cites W3090507726 @default.
- W4200262077 cites W3091987029 @default.
- W4200262077 cites W3094967361 @default.
- W4200262077 cites W3126480584 @default.
- W4200262077 cites W3139366518 @default.
- W4200262077 cites W3153520238 @default.
- W4200262077 cites W3161247940 @default.
- W4200262077 cites W3169527058 @default.
- W4200262077 cites W3177149152 @default.
- W4200262077 cites W3195198619 @default.