FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4382933883> ?p ?o ?g. }

• W4382933883 abstract "Abstract The SORL1 gene has recently emerged as a strong Alzheimer Disease risk gene. Over 500 different variants have been identified in the gene and the contribution of individual variants to AD development and progression is still unknown. Here, we describe a multi-generational family with both early- and late-onset AD in two generations. Exome sequencing identified a coding variant, p.(Arg953Cys), in SORL1 in 4 of 5 individuals affected by AD. Notably, variant carriers had severe AD pathology, including the presence of Aβ plaques in the cerebellum as well as TDP-43 pathology. We further characterized this variant and show that this Arginine substitution occurs at a critical domain position of the SORL1 translation product, SORL1. In vitro studies further show that the SORL1 p.R953C variant has decreased maturation and shedding of the SORL1 protein, and also leads to mis-localization within cells. Together, our analysis suggests that p.R953C is a likely pathogenic variant of SORL1 and sheds light on mechanisms of how missense SORL1 variants may lead to AD." @default.
• W4382933883 created "2023-07-04" @default.
• W4382933883 creator A5005577494 @default.
• W4382933883 creator A5013645303 @default.
• W4382933883 creator A5019627764 @default.
• W4382933883 creator A5031106340 @default.
• W4382933883 creator A5035909512 @default.
• W4382933883 creator A5045479579 @default.
• W4382933883 creator A5046014282 @default.
• W4382933883 creator A5062613069 @default.
• W4382933883 creator A5073296754 @default.
• W4382933883 creator A5084188800 @default.
• W4382933883 creator A5092384552 @default.
• W4382933883 date "2023-07-03" @default.
• W4382933883 modified "2023-10-05" @default.
• W4382933883 title "A familial missense variant in the AD gene<i>SORL1</i>impairs its maturation and endosomal sorting" @default.
• W4382933883 cites W1459719961 @default.
• W4382933883 cites W1921675910 @default.
• W4382933883 cites W1967096927 @default.
• W4382933883 cites W1969223643 @default.
• W4382933883 cites W1984544042 @default.
• W4382933883 cites W1994036103 @default.
• W4382933883 cites W1996675875 @default.
• W4382933883 cites W1999369504 @default.
• W4382933883 cites W2003194693 @default.
• W4382933883 cites W2007783013 @default.
• W4382933883 cites W2008481692 @default.
• W4382933883 cites W2017547982 @default.
• W4382933883 cites W2021622661 @default.
• W4382933883 cites W2022121540 @default.
• W4382933883 cites W2035298669 @default.
• W4382933883 cites W2053210112 @default.
• W4382933883 cites W2058880763 @default.
• W4382933883 cites W2064906880 @default.
• W4382933883 cites W2086812798 @default.
• W4382933883 cites W2091242259 @default.
• W4382933883 cites W2092646825 @default.
• W4382933883 cites W2094212448 @default.
• W4382933883 cites W2103441770 @default.
• W4382933883 cites W2106578986 @default.
• W4382933883 cites W2115779804 @default.
• W4382933883 cites W2119180969 @default.
• W4382933883 cites W2119413986 @default.
• W4382933883 cites W2128228199 @default.
• W4382933883 cites W2143461767 @default.
• W4382933883 cites W2143884110 @default.
• W4382933883 cites W2154944042 @default.
• W4382933883 cites W2157238681 @default.
• W4382933883 cites W2168133698 @default.
• W4382933883 cites W2325841306 @default.
• W4382933883 cites W2620116489 @default.
• W4382933883 cites W2765549742 @default.
• W4382933883 cites W2916749909 @default.
• W4382933883 cites W2943828894 @default.
• W4382933883 cites W2951968424 @default.
• W4382933883 cites W3001550795 @default.
• W4382933883 cites W3029808235 @default.
• W4382933883 cites W3040963039 @default.
• W4382933883 cites W3135374557 @default.
• W4382933883 cites W3169527058 @default.
• W4382933883 cites W4200035355 @default.
• W4382933883 cites W4200537491 @default.
• W4382933883 cites W4206774749 @default.
• W4382933883 cites W4214693417 @default.
• W4382933883 cites W4220873010 @default.
• W4382933883 cites W4226077512 @default.
• W4382933883 cites W4281696518 @default.
• W4382933883 cites W4295760959 @default.
• W4382933883 cites W4298127824 @default.
• W4382933883 cites W4309664456 @default.
• W4382933883 cites W4311237378 @default.
• W4382933883 cites W4317358620 @default.
• W4382933883 cites W4322487106 @default.
• W4382933883 cites W4378715931 @default.
• W4382933883 doi "https://doi.org/10.1101/2023.07.01.547348" @default.
• W4382933883 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37461597" @default.
• W4382933883 hasPublicationYear "2023" @default.
• W4382933883 type Work @default.
• W4382933883 citedByCount "2" @default.
• W4382933883 countsByYear W43829338832022 @default.
• W4382933883 countsByYear W43829338832023 @default.
• W4382933883 crossrefType "posted-content" @default.
• W4382933883 hasAuthorship W4382933883A5005577494 @default.
• W4382933883 hasAuthorship W4382933883A5013645303 @default.
• W4382933883 hasAuthorship W4382933883A5019627764 @default.
• W4382933883 hasAuthorship W4382933883A5031106340 @default.
• W4382933883 hasAuthorship W4382933883A5035909512 @default.
• W4382933883 hasAuthorship W4382933883A5045479579 @default.
• W4382933883 hasAuthorship W4382933883A5046014282 @default.
• W4382933883 hasAuthorship W4382933883A5062613069 @default.
• W4382933883 hasAuthorship W4382933883A5073296754 @default.
• W4382933883 hasAuthorship W4382933883A5084188800 @default.
• W4382933883 hasAuthorship W4382933883A5092384552 @default.
• W4382933883 hasBestOaLocation W43829338831 @default.
• W4382933883 hasConcept C104317684 @default.
• W4382933883 hasConcept C127716648 @default.
• W4382933883 hasConcept C54355233 @default.
• W4382933883 hasConcept C75563809 @default.
• W4382933883 hasConcept C86803240 @default.
• W4382933883 hasConceptScore W4382933883C104317684 @default.

• next