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Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
Schwartzentruber J, Cooper S, Liu JZ, Barrio-Hernandez I, Bello E, Kumasaka N, Young AMH, Franklin RJM, Johnson T, Estrada K, Gaffney DJ, Beltrao P, Bassett A. Schwartzentruber J, et al. Nat Genet. 2021 Mar;53(3):392-402. doi: 10.1038/s41588-020-00776-w. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589840 Free PMC article.
Combining this information into a quantitative score, we found that evidence converged on likely causal genes, including the above four genes, and those at previously discovered AD loci, including BIN1, APH1B, PTK2B, PILRA and CASS4....
Combining this information into a quantitative score, we found that evidence converged on likely causal genes, including the above four gene …
BIN1 is a key regulator of proinflammatory and neurodegeneration-related activation in microglia.
Sudwarts A, Ramesha S, Gao T, Ponnusamy M, Wang S, Hansen M, Kozlova A, Bitarafan S, Kumar P, Beaulieu-Abdelahad D, Zhang X, Collier L, Szekeres C, Wood LB, Duan J, Thinakaran G, Rangaraju S. Sudwarts A, et al. Mol Neurodegener. 2022 May 7;17(1):33. doi: 10.1186/s13024-022-00535-x. Mol Neurodegener. 2022. PMID: 35526014 Free PMC article.
BIN1 undergoes alternate splicing to generate tissue- and cell-type-specific BIN1 isoforms, which regulate membrane dynamics in a range of crucial cellular processes. Whilst the expression of BIN1 in the brain has been characterized in neurons and oligodendro …
BIN1 undergoes alternate splicing to generate tissue- and cell-type-specific BIN1 isoforms, which regulate membrane dynamics i …
Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.
Nott A, Holtman IR, Coufal NG, Schlachetzki JCM, Yu M, Hu R, Han CZ, Pena M, Xiao J, Wu Y, Keulen Z, Pasillas MP, O'Connor C, Nickl CK, Schafer ST, Shen Z, Rissman RA, Brewer JB, Gosselin D, Gonda DD, Levy ML, Rosenfeld MG, McVicker G, Gage FH, Ren B, Glass CK. Nott A, et al. Science. 2019 Nov 29;366(6469):1134-1139. doi: 10.1126/science.aay0793. Epub 2019 Nov 14. Science. 2019. PMID: 31727856 Free PMC article.
Deletion of a microglia-specific enhancer harboring AD-risk variants ablated BIN1 expression in microglia, but not in neurons or astrocytes. These findings revise and expand the list of genes likely to be influenced by noncoding variants in AD and suggest the probable cell …
Deletion of a microglia-specific enhancer harboring AD-risk variants ablated BIN1 expression in microglia, but not in neurons or astr …
A map of transcriptional heterogeneity and regulatory variation in human microglia.
Young AMH, Kumasaka N, Calvert F, Hammond TR, Knights A, Panousis N, Park JS, Schwartzentruber J, Liu J, Kundu K, Segel M, Murphy NA, McMurran CE, Bulstrode H, Correia J, Budohoski KP, Joannides A, Guilfoyle MR, Trivedi R, Kirollos R, Morris R, Garnett MR, Timofeev I, Jalloh I, Holland K, Mannion R, Mair R, Watts C, Price SJ, Kirkpatrick PJ, Santarius T, Mountjoy E, Ghoussaini M, Soranzo N, Bayraktar OA, Stevens B, Hutchinson PJ, Franklin RJM, Gaffney DJ. Young AMH, et al. Nat Genet. 2021 Jun;53(6):861-868. doi: 10.1038/s41588-021-00875-2. Epub 2021 Jun 3. Nat Genet. 2021. PMID: 34083789 Free PMC article.
We follow up one of our findings using a human induced pluripotent stem cell-based macrophage model to fine-map a candidate causal variant for Alzheimer's disease at the BIN1 locus. Our study provides a population-scale transcriptional map of a critically important cell fo …
We follow up one of our findings using a human induced pluripotent stem cell-based macrophage model to fine-map a candidate causal variant f …
Hypoxia-induced exosomal circPDK1 promotes pancreatic cancer glycolysis via c-myc activation by modulating miR-628-3p/BPTF axis and degrading BIN1.
Lin J, Wang X, Zhai S, Shi M, Peng C, Deng X, Fu D, Wang J, Shen B. Lin J, et al. J Hematol Oncol. 2022 Sep 6;15(1):128. doi: 10.1186/s13045-022-01348-7. J Hematol Oncol. 2022. PMID: 36068586 Free PMC article.
In addition, circPDK1 serves as a scaffold that enhances the interaction between UBE2O and BIN1, inducing the UBE2O-mediated degradation of BIN1. CONCLUSIONS: We found that circPDK1 was activated by HIF1A at the transcriptional level by modulating the miR-628-3p/BPT …
In addition, circPDK1 serves as a scaffold that enhances the interaction between UBE2O and BIN1, inducing the UBE2O-mediated degradat …
Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.
Li Y, Laws SM, Miles LA, Wiley JS, Huang X, Masters CL, Gu BJ. Li Y, et al. Cell Mol Life Sci. 2021 Dec;78(23):7397-7426. doi: 10.1007/s00018-021-03986-5. Epub 2021 Oct 27. Cell Mol Life Sci. 2021. PMID: 34708251 Review.
Over 130 AD-associated susceptibility loci have been identified by genome-wide association studies (GWAS), while whole genome sequencing (WGS) and whole exome sequencing (WES) studies have identified AD-associated rare variants. These variants are enriched in APOE, TREM2, CR1, CD …
Over 130 AD-associated susceptibility loci have been identified by genome-wide association studies (GWAS), while whole genome sequencing (WG …
Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes.
Novikova G, Kapoor M, Tcw J, Abud EM, Efthymiou AG, Chen SX, Cheng H, Fullard JF, Bendl J, Liu Y, Roussos P, Björkegren JL, Liu Y, Poon WW, Hao K, Marcora E, Goate AM. Novikova G, et al. Nat Commun. 2021 Mar 12;12(1):1610. doi: 10.1038/s41467-021-21823-y. Nat Commun. 2021. PMID: 33712570 Free PMC article.
We identify AD risk enhancers and nominate candidate causal genes among their likely targets (including AP4E1, AP4M1, APBB3, BIN1, MS4A4A, MS4A6A, PILRA, RABEP1, SPI1, TP53INP1, and ZYX) in twenty loci. ...
We identify AD risk enhancers and nominate candidate causal genes among their likely targets (including AP4E1, AP4M1, APBB3, BIN1, MS …
The role of Alzheimer's disease risk genes in endolysosomal pathways.
Szabo MP, Mishra S, Knupp A, Young JE. Szabo MP, et al. Neurobiol Dis. 2022 Jan;162:105576. doi: 10.1016/j.nbd.2021.105576. Epub 2021 Dec 3. Neurobiol Dis. 2022. PMID: 34871734 Free PMC article. Review.
These genes include SORL1, an AD risk gene harboring both rare and common variants associated with AD risk and a role in trafficking cargo, including APP, through the ELN; BIN1, a regulator of clathrin-mediated endocytosis whose expression correlates with Tau pathology; CD …
These genes include SORL1, an AD risk gene harboring both rare and common variants associated with AD risk and a role in trafficking cargo, …
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M, Gibbons E, Bras J, Guerreiro R. Khani M, et al. Mol Neurodegener. 2022 Jan 9;17(1):3. doi: 10.1186/s13024-021-00505-9. Mol Neurodegener. 2022. PMID: 35000612 Free PMC article. Review.
All of these can potentially be targeted for the development of new drugs.Multiple independent studies have now shown associations of rare variants in NOTCH3, TREM2, SORL1, ABCA7, BIN1, CLU, NCK2, AKAP9, UNC5C, PLCG2, and ABI3 with AD and suggested that they may influence …
All of these can potentially be targeted for the development of new drugs.Multiple independent studies have now shown associations of rare v …
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.
Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C; Writing Group for the Alzheimer’s Disease Genetics Consortium (ADGC); Graff-Radford NR, Martinez I, Ayodele T, Logue MW, Cantwell LB, Jean-Francois M, Kuzma AB, Adams LD, Vance JM, Cuccaro ML, Chung J, Mez J, Lunetta KL, Jun GR, Lopez OL, Hendrie HC, Reiman EM, Kowall NW, Leverenz JB, Small SA, Levey AI, Golde TE, Saykin AJ, Starks TD, Albert MS, Hyman BT, Petersen RC, Sano M, Wisniewski T, Vassar R, Kaye JA, Henderson VW, DeCarli C, LaFerla FM, Brewer JB, Miller BL, Swerdlow RH, Van Eldik LJ, Paulson HL, Trojanowski JQ, Chui HC, Rosenberg RN, Craft S, Grabowski TJ, Asthana S, Morris JC, Strittmatter SM, Kukull WA. Kunkle BW, et al. JAMA Neurol. 2021 Jan 1;78(1):102-113. doi: 10.1001/jamaneurol.2020.3536. JAMA Neurol. 2021. PMID: 33074286 Free PMC article.
Of 25 known loci associated with Alzheimer disease in non-Hispanic White individuals, only APOE, ABCA7, TREM2, BIN1, CD2AP, FERMT2, and WWOX were implicated at a nominal significance level or stronger in African American individuals. ...
Of 25 known loci associated with Alzheimer disease in non-Hispanic White individuals, only APOE, ABCA7, TREM2, BIN1, CD2AP, FERMT2, a …
91 results