2022
DOI: 10.1016/j.nbd.2021.105576
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The role of Alzheimer's disease risk genes in endolysosomal pathways

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Cited by 39 publications
(28 citation statements)
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References 179 publications
(217 reference statements)
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“…Many genes associated with AD risk are involved in endocytosis, including BIN1, PICALM, CD2AP, EPHA1 and SORL1 (Karch and Goate, 2015; Szabo et al, 2021). In addition, whole-exome sequencing performed on early-onset Alzheimer’s disease patients found multiple genes involved in endolysosomal transport (Kunkle et al, 2017).…”
Section: Discussionmentioning
confidence: 99%
“…Many genes associated with AD risk are involved in endocytosis, including BIN1, PICALM, CD2AP, EPHA1 and SORL1 (Karch and Goate, 2015; Szabo et al, 2021). In addition, whole-exome sequencing performed on early-onset Alzheimer’s disease patients found multiple genes involved in endolysosomal transport (Kunkle et al, 2017).…”
Section: Discussionmentioning
confidence: 99%
“…Recent studies demonstrate that oxidative phosphorylation is markedly dysregulated in the brain in a mouse model of DS and AD [ 65 ]. Indeed, mitochondrial bioenergetic dysfunction and associated defects in protein processing have been already implicated in many forms of neurodegeneration [ [66] , [67] , [68] , [69] , [70] , [71] , [72] ]. In this context, it is interesting to note that Kanaumi and colleagues have previously detected a marked increase in CBS-positive astrocytes around senile plaques in adults with DS [ 17 ].…”
Section: Discussionmentioning
confidence: 99%
“…Note that the first two papers, and our later discussion of the effects of fAD mutations in PSEN1 and PSEN2, link these genes to normal functioning of the cellular endolysosomal system. Many of the late onset AD risk loci discovered by genome-wide association studies (GWAS) are also important for endolysosomal system function [81,82]. Indeed, the strongest genetic risk factor for sporadic (non-familial) AD, the 4 allele of APOE (APOE4), reduces lysosomal acidification relative to the 3 allele [83] (in common with fAD mutations in APP [28] and the presenilins [84]).…”
Section: The Explanatory Power Of Increased Ctf Levels As the Ad-cau...mentioning
confidence: 99%