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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. ...RESULTS: Here, we characterized microglial BIN1 expression in vitro and in vivo and ascer …
BIN1 undergoes alternate splicing to generate tissue- and cell-type-specific BIN1 isoforms, which regulate membrane dynamics i …
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 …
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 …
Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle.
Giraud Q, Laporte J. Giraud Q, et al. Trends Mol Med. 2024 Jun;30(6):579-591. doi: 10.1016/j.molmed.2024.02.005. Epub 2024 Mar 20. Trends Mol Med. 2024. PMID: 38514365 Review.
Mutations in the gene encoding BIN1 cause centronuclear myopathies (CNM), and recent evidence has implicated BIN1 in heart failure, underlining its crucial role in both skeletal and cardiac muscle. ...Recently, the first proof-of-concept for potential therapeutic st …
Mutations in the gene encoding BIN1 cause centronuclear myopathies (CNM), and recent evidence has implicated BIN1 in heart fai …
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 …
Establishment of KEIOi005-A iPSC line from urine-derived cells (UDCs) of a mild Alzheimer's disease (AD) donor with multiple risk SNPs for sporadic Alzheimer's disease (sAD).
Supakul S, Leventoux N, Tabuchi H, Mimura M, Ito D, Maeda S, Okano H. Supakul S, et al. Stem Cell Res. 2022 Jul;62:102802. doi: 10.1016/j.scr.2022.102802. Epub 2022 May 5. Stem Cell Res. 2022. PMID: 35537244 Free article.
Herein, we generated the KEIOi005-A-induced pluripotent stem cell (iPSC) line from urine-derived cells (UDCs) of a mild Alzheimer's disease (AD) patient with multiple sAD risk SNPs comprising T > C heterozygous APOE epsilon3/epsilon4 (rs429358), A > G heterozygous BIN1 …
Herein, we generated the KEIOi005-A-induced pluripotent stem cell (iPSC) line from urine-derived cells (UDCs) of a mild Alzheimer's disease …
Cdk5 and GSK3β inhibit fast endophilin-mediated endocytosis.
Ferreira APA, Casamento A, Carrillo Roas S, Halff EF, Panambalana J, Subramaniam S, Schützenhofer K, Chan Wah Hak L, McGourty K, Thalassinos K, Kittler JT, Martinvalet D, Boucrot E. Ferreira APA, et al. Nat Commun. 2021 Apr 23;12(1):2424. doi: 10.1038/s41467-021-22603-4. Nat Commun. 2021. PMID: 33893293 Free PMC article.
The kinases also block the recruitment of Dynein onto FEME carriers by Bin1. As GSK3beta binds to Endophilin, it imposes a local regulation of FEME. Thus, Cdk5 and GSK3beta are key regulators of FEME, licensing cells for rapid uptake by the pathway only when their activity …
The kinases also block the recruitment of Dynein onto FEME carriers by Bin1. As GSK3beta binds to Endophilin, it imposes a local regu …
Epigenetics in Neurodegenerative Diseases.
van Zundert B, Montecino M. van Zundert B, et al. Subcell Biochem. 2025;108:73-109. doi: 10.1007/978-3-031-75980-2_3. Subcell Biochem. 2025. PMID: 39820861 Review.
Second, the presence of AD genetic risk variants in cell-type-specific distal enhancers (i.e., BIN1 in microglia) alters transcription, presumably by disrupting associated enhancer-promoter interactions and chromatin looping. ...
Second, the presence of AD genetic risk variants in cell-type-specific distal enhancers (i.e., BIN1 in microglia) alters transcriptio …
PICALM and Alzheimer's Disease: An Update and Perspectives.
Ando K, Nagaraj S, Küçükali F, de Fisenne MA, Kosa AC, Doeraene E, Lopez Gutierrez L, Brion JP, Leroy K. Ando K, et al. Cells. 2022 Dec 10;11(24):3994. doi: 10.3390/cells11243994. Cells. 2022. PMID: 36552756 Free PMC article. Review.
Genome-wide association studies (GWAS) have identified the PICALM (Phosphatidylinositol binding clathrin-assembly protein) gene as the most significant genetic susceptibility locus after APOE and BIN1. PICALM is a clathrin-adaptor protein that plays a critical role in clat …
Genome-wide association studies (GWAS) have identified the PICALM (Phosphatidylinositol binding clathrin-assembly protein) gene as the most …
85 results