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SORL1 mutations in early- and late-onset Alzheimer disease.
Cuccaro ML, Carney RM, Zhang Y, Bohm C, Kunkle BW, Vardarajan BN, Whitehead PL, Cukier HN, Mayeux R, St George-Hyslop P, Pericak-Vance MA. Cuccaro ML, et al. Neurol Genet. 2016 Oct 26;2(6):e116. doi: 10.1212/NXG.0000000000000116. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27822510 Free PMC article.
OBJECTIVE: To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS: We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset
OBJECTIVE: To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHO …
The Alzheimer's gene SORL1 is a regulator of endosomal traffic and recycling in human neurons.
Mishra S, Knupp A, Szabo MP, Williams CA, Kinoshita C, Hailey DW, Wang Y, Andersen OM, Young JE. Mishra S, et al. Cell Mol Life Sci. 2022 Feb 28;79(3):162. doi: 10.1007/s00018-022-04182-9. Cell Mol Life Sci. 2022. PMID: 35226190 Free PMC article.
BACKGROUND: Loss of the Sortilin-related receptor 1 (SORL1) gene seems to act as a causal event for Alzheimer's disease (AD). Recent studies have established that loss of SORL1, as well as mutations in autosomal dominant AD genes APP and PSEN1/2 …
BACKGROUND: Loss of the Sortilin-related receptor 1 (SORL1) gene seems to act as a causal event for Alzheimer's disease
Molecular Genetics of Early- and Late-Onset Alzheimer's Disease.
Uddin MS, Hasana S, Hossain MF, Islam MS, Behl T, Perveen A, Hafeez A, Ashraf GM. Uddin MS, et al. Curr Gene Ther. 2021;21(1):43-52. doi: 10.2174/1566523220666201123112822. Curr Gene Ther. 2021. PMID: 33231156 Review.
Alzheimer's disease (AD) is the most common form of dementia in the elderly and this complex disorder is associated with environmental as well as genetic factors. Early-onset AD (EOAD) and late-onset AD (LOAD, more common) are major ident
Alzheimer's disease (AD) is the most common form of dementia in the elderly and this complex disorder is associated with envir
Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimer's disease.
Barthelson K, Pederson SM, Newman M, Lardelli M. Barthelson K, et al. Mol Brain. 2020 Oct 19;13(1):142. doi: 10.1186/s13041-020-00681-7. Mol Brain. 2020. PMID: 33076949 Free PMC article.
To prevent or delay the onset of Alzheimer's disease (AD), we must understand its molecular basis. The great majority of AD cases arise sporadically with a late onset after 65 years of age (LOAD). However, rare familial cases of AD can occur due …
To prevent or delay the onset of Alzheimer's disease (AD), we must understand its molecular basis. The great majority o …
Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer's disease.
Qiu G, Zhu FQ, Xu C. Qiu G, et al. J Clin Neurosci. 2021 Jul;89:243-248. doi: 10.1016/j.jocn.2021.05.020. Epub 2021 May 13. J Clin Neurosci. 2021. PMID: 34119275
The sortilin-related receptor 1 (SORL1) gene has been the subject of many studies focusing on frequent polymorphisms, which is associated with increased risk for Alzheimer's Disease (AD). ...These findings suggest that both F193L and N466S should be thought a …
The sortilin-related receptor 1 (SORL1) gene has been the subject of many studies focusing on frequent polymorphisms, which is associ …
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.
Kunkle BW, Vardarajan BN, Naj AC, Whitehead PL, Rolati S, Slifer S, Carney RM, Cuccaro ML, Vance JM, Gilbert JR, Wang LS, Farrer LA, Reitz C, Haines JL, Beecham GW, Martin ER, Schellenberg GD, Mayeux RP, Pericak-Vance MA. Kunkle BW, et al. JAMA Neurol. 2017 Sep 1;74(9):1113-1122. doi: 10.1001/jamaneurol.2017.1518. JAMA Neurol. 2017. PMID: 28738127 Free PMC article.
IMPORTANCE: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unex …
IMPORTANCE: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account f …
SORL1 Variants in Familial Alzheimer's Disease.
Gómez-Tortosa E, Ruggiero M, Sainz MJ, Villarejo-Galende A, Prieto-Jurczynska C, Venegas Pérez B, Ordás C, Agüero P, Guerrero-López R, Pérez-Pérez J. Gómez-Tortosa E, et al. J Alzheimers Dis. 2018;61(4):1275-1281. doi: 10.3233/JAD-170590. J Alzheimers Dis. 2018. PMID: 29376855
The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology. We screened for SORL1 variants in 124 familial (44 early- and 80 late-onset
The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's …
Novel Rare SORL1 Variants in Early-Onset Dementia.
Korpioja A, Krüger J, Koivuluoma S, Pylkäs K, Moilanen V, Helisalmi S, Hiltunen M, Remes AM. Korpioja A, et al. J Alzheimers Dis. 2021;82(2):761-770. doi: 10.3233/JAD-210207. J Alzheimers Dis. 2021. PMID: 34092641
BACKGROUND: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer's disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the dis
BACKGROUND: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.
Lacour M, Quenez O, Rovelet-Lecrux A, Salomon B, Rousseau S, Richard AC, Quillard-Muraine M, Pasquier F, Rollin-Sillaire A, Martinaud O, Zarea A, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Magnin E, Sauvée M, Marelli C, Gabelle A, Pariente J, Paquet C, Boland A, Deleuze JF, Campion D, Hannequin D, Nicolas G, Wallon D; collaborators of the CNR-MAJ. Lacour M, et al. J Alzheimers Dis. 2019;71(1):227-243. doi: 10.3233/JAD-190193. J Alzheimers Dis. 2019. PMID: 31381512
BACKGROUND: Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). ...Among the NMC, 54/99 carried at least …
BACKGROUND: Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL
Endolysosome and autophagy dysfunction in Alzheimer disease.
Hung C, Livesey FJ. Hung C, et al. Autophagy. 2021 Nov;17(11):3882-3883. doi: 10.1080/15548627.2021.1963630. Epub 2021 Aug 25. Autophagy. 2021. PMID: 34429033 Free PMC article.
Abnormalities of the neuronal endolysosome and macroautophagy/autophagy system are an early and prominent feature of Alzheimer disease (AD). SORL1 is notable as a gene in which mutations are causal for a rare, autosomal dominant form of AD, and …
Abnormalities of the neuronal endolysosome and macroautophagy/autophagy system are an early and prominent feature of Alzheimer
44 results