14 publications found.
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Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN#, Bellen HJ# (2023). Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. eLife 12:RP89891 Abstract # co-corresponding author
Nil Z*, Deshwar AR*, Huang Y, Barish S, Zhang X, Choufani S, Stabej PLQ, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vollo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M, Undiagnosed Disease Network, Wangler MF, Weksberg R, Yamamoto S, Costain G#, Bellen HJ# (2023).
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
The American Journal of Human Genetics
110(11):1919-1937
Abstract
*equal contribution, # co-corresponding authors
Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH, Undiagnosed Diseases Network, Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJ (2023). A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nature Metabolism 5(9):1595-1614 Abstract
Wang CY, Zuo Z, Jo J, Kim KI, Madamba C, Ye Q, Jung SY, Bellen HJ, Lee HK (2023). Daam2 phosphorylation by CK2alpha negatively regulates Wnt activity during white matter development and injury. Proceedings of the National Academy of Sciences 120(35):e2304112120 Abstract
Guichard A*, Lu S*, Kanca O*, Bressan D, Huang Y, Ma M, Sanz Juste S, Andrews JC, Jay K, Sneider M, Schwartz R, Huang MC, Bei D, Pan H, Ma L, Lin WW, Auradkar A, Bhagwat P, Park S, Wan KH, Ohsako T, Takano-Shimizu T, Celniker SE, Wangler MF, Yamamoto S#, Bellen HJ#, Bier E# (2023). A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Reports 42(8):112842 Abstract *equal contribution, #co-corresponding authors
Lu TC, Brbic M, Park YJ, Jackson T, Chen J, Kolluru SS, Qi Y, Katheder NS, Cai XT, Lee S, Chen YC, Auld N, Liang CY, Ding SH, Welsch D, D'Souza S, Pisco AO, Jones RC, Leskovec J, Lai EC, Bellen HJ, Luo L, Jasper H, Quake SR, Li H (2023). Aging Fly Cell Atlas identifies exhaustive aging features at cellular resolution. Science 380(6650):eadg0934 Abstract
Ralhan I, Chang J, Moulton MJ, Goodman LD, Lee NYJ, Plummer G, Pasolli HA, Matthies D, Bellen HJ , Ioannou MS (2023). Autolysosomal exocytosis of lipids protect neurons from ferroptosis. Journal of Cell Biology 222(6)(6):e202207130 Abstract
Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell B, Wang LK, Undiagnosed Disease Network (UDN), Nelson SF, Bellen HJ, Yamamoto S, Malicdan M#, Wangler MF# (2023). De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genetics in Medicine 25(6):100833 Abstract #co-corresponding authors
Chung HL, Ye Q, Park YJ, Zuo Z, Kanca O, Mok J-W, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJ (2023). Very long-chain fatty acids induce glial-derived Sphingosine-1-Phosphate synthesis, secretion, and neuroinflammation. Cell Metabolism 35(5):855-874 Abstract
Ravenscroft TA, Jacobs A, Gu M, Eberl DF, Bellen HJ (2023). The Voltage-gated sodium channel in Drosophila, Para, localizes to dendrites as well as axons in mechanosensitive chordotonal neurons. eNeuro 10(6):ENEURO.0105-23.2023 Abstract
Tepe B, Macke EL, Niceta M, Hubsham MW, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer B, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Guillou XL, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P. Gößwein S, Donato ND, Bertini ES, Undiagnosed Diseases Network(UDN), Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ (2023). Biallelic variants in INTS11 are associated with a novel complex neurological disorder. The American Journal of Human Genetics 110(5):774-789 Abstract
Pan X, Dutta D, Lu S, Bellen HJ (2023). Sphingolipids in neurodegenerative diseases. Frontiers in Neuroscience 17:1137893 Abstract
Lin G, Tepe B, McGrane G, Tipon RC, Croft G, Panwala L, Hope A, Liang AJH, Zuo Z, Wang L, Bellen HJ (2023). Exploring therapeutic strategies for Infantile Neuronal Axonal Dystrophy (INAD/PARK14). eLife 12:e82555 Abstract
Ma M*, Zhang X*, Zheng Y, Lu S, Pan X, Mao X, Pan H, Chung HL, Wang H, Hong Guo H#, Bellen HJ# (2023). The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Human Molecular Genetics 32(6):984-997 Abstract *equal contribution. #co-corresponding authors