13 publications found.
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Dubey SK, Chaubey D, Ikenaga C, Lin WW, Bellen HJ, Lloyd TE (2025). Aberrant nuclear pore complex degradation contributes to neurodegeneration in VCP disease. Neuron 114(5):850-867 Abstract
Jay KL, Gogate N, Hall PI, Ezell KM, Andrews JC, Jangam SV, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch EA; Brain Gene Registry Consortium; Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick HA, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Pruthi S, Chen HC, Posey JE, Wangler MF (2025). Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. Human Genetics and Genomics Advances 7(1):100541 Abstract
Deger J, Hannan S, Gu M, Strohlein C, Goodman L, Pasupuleti S, Shaik Z, Ma L, Li Y, Li J, Stephens M, Liu Z, Al-Ramahi I, Botas J, Shaw C, Kanca O, Bellen HJ#, Shulman JM# (2025). Revealing the nervous system requirements of Alzheimer's disease risk genes in Drosophila. The American Journal of Human Genetics 112(12):2870-2887 Abstract #co-corresponding authors
Booth KTA, Jangam SV, Chui MMC, Treat K, Graziani L, Soldano A, Ruan Y, Wan-Hei Hui J, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Baptista J, Iancu D, Joss SK, Wong SYY, Mak CCY, Kwong AKY, Bellen HJ, Conboy E, Sanges R, Leung AY, Wangler MF, Chung BHY, Vetrini F (2025). De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain 148(8):2658-2670 Abstract
Ma M, Zheng Y, Deng M, Lu S, Pan X, Luo X, Etoundi M, Li-Kroeger D, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Otten CE, Blanc P, Rosenfeld JA, Dutta D, Yamamoto S, Wangler MF, Glass IA, Chen J, Blue E, Prontera P, Rosain J, Marlin S, Lalani SR, Bellen HJ; Undiagnosed Diseases Network (2025). Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. Elife 13:RP95887 Abstract
Kim JD, Chaudhary S, Chen W, Astin J, Crosier PS, Yu P, Cooke JP, Pownall HJ, Bellen HJ, Le NT, Kiss DL, Wang G, Rockson SG, Chen H, Fang L (2025). APOA1 binding protein promotes lymphatic cell fate and lymphangiogenesis by relieving caveolae-mediated inhibition of VEGFR3 signaling. Nature Communications 16(1):9286 Abstract
Kozlova A, Zhang S, Sudwarts A, Zhang H, Smirnou S, Byeon SK, Thapa C, Sun X, Stephenson K, Zhao X, Jamison B, Ponnusamy M, He X, Schneider JA, Pandey A, Bennett DA, Pan ZP, Sanders AR, Bellen HJ, Thinakaran G, and Duan J (2025). Alzheimer's disease risk allele of PICALM causes detrimental lipid droplets in microglia. Nature 646(8087):1178-1186 Abstract
Park YJ*, Lu TC*, Jackson T, Goodman LD, Ran L, Chen J, Liang CY, Harrison E, Ko C, Chen X, Wang B, Hsu AL, Ochoa E, Bieniek KF, Yamamoto S, Zhu Y, Zheng H, Qi Y, Bellen HJ#, Li H# (2025). Distinct systemic impacts of AB42 and Tau revealed by whole-organism snRNA-seq in Drosophila. Neuron 113(13):2065-2082 Abstract *co-first authors, #co-corresponding authors
Mok JW, Mackay L, Blazo M, Mizerik E, Gecz J, Carroll R, Nizon M, Rondeau S, Joubert M, Cuinat S, Deb W, Valle Sirias F, Weisz-Hubshman M, Ketkar S, Polak U, Tran AA, Kearney D, Hanchard NA, Kanca O, Wangler MF, Bellen HJ, Lee BH; Baylor College of Medicine Center for Precision Medicine Models; Yamamoto S, Machol K (2025). C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genetics in Medicine 27(7):101429 Abstract
Dubey SK, Bellen HJ (2025). A neuroprotective role of polyunsaturated fatty acids in C9orf72-ALS/FTD. Nature Neuroscience 28(4):710-712 Abstract
Huang Y, Xiang Z, Xiang Y, Pan H, He M, Guo Z, Kanca O, Liu C, Zhang Z, Zhan H, Wang Y, Bai QR, Bellen HJ, Wang H, Bian S, Mao X (2025). Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. Journal of Genetics and Genomics 52(10):1189-1198 Abstract
Bereshneh AH, Andrews JC, Eberl DF, Bademci G, Borja NA, Bivona S, Chung WK, Yamamoto S, Wangler MF, McKee S, Tekin M, Bellen HJ, Kanca O (2025). De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. The American Journal of Human Genetics 112(4):846-862 Abstract
Zhao X, Li Y, Zhang S, Sudwarts A, Zhang H, Kozlova A, Moulton MJ, Goodman LD, Pang ZP, Sanders AR, Bellen HJ, Thinakaran G, Duan J (2025). Alzheimer's disease protective allele of Clusterin modulates neuronal excitability through lipid-droplet-mediated neuron-glia communication. Molecular Neurodegeneration 20(1):51 Abstract