15 publications found.
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Cunningham K, Zhang K, Maulding K, Senturk M, Grima J, Sung H, Zuo Z, Song H, Rothstein J, Bellen HJ, Lloyd T (2020). TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS. eLife 9:e59419 Abstract
Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips J, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Members of Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, Slegtenhorst MV, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Cooley L, Gass J, Louie R, Stolerman E, Washington C, Laar IVD, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Rosenfeld JA, Westerfield M, Wangler M, Kadoch C, Yamamoto S, Scott DA, Bellen HJ (2020). BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms. The American Journal of Human Genetics 107(6):1096-1112 Abstract
Martelli F, Zuo Z, Wang J, Wong CO, Karagas NE, Roessner U, Rupasinghe T, Venkatachalam K, Perry T, Bellen HJ, Batterham P (2020). Low doses of the neonicotinoid insecticide imidacloprid induce ROS triggering neurological and metabolic impairments in Drosophila. Proceedings of the National Academy of Sciences 117:25840-25850 Abstract
Link N, Bellen HJ (2020). Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases. Development 147(21)(dev191411):1-7 Abstract
Ravenscroft TA, Janssens J, Lee PT, Tepe B, Marcogliese PC, Makhzami S, Holmes T, Aerts S, Bellen HJ (2020). Drosophila voltage-gated sodium channels are only expressed in active neurons and are localized to distal axonal initial segment-like domains. Journal of Neuroscience 40:7999-8024 Article Abstract
Ding X, Jo J, Wang CY, Cristobal CD, Zuo Z, Ye Q, Wirianto M, Lindeke-Myers A, Choi JM, Mohila CA, Kawabe H, Jun SY, Bellen HJ, Yoo SH, Lee HK (2020). The Daam2-VHL-Nedd4 Axis 1 Governs Developmental and Regenerative Oligodendrocyte Differentiation. Genes and Development 34(17-18):1177-1189 Abstract
Kao CY, Xu M, Wang L, Lin SC, Lee HJ, Duraine L, Bellen HJ, Goldetein DS, Tsai SY, Tsai MJ (2020). Elevated COUP-TFII expression in dopaminergic neurons accelerates the progression of Parkinson's disease through mitochondrial dysfunction. PloS Genetics 16(6):e1008868
Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ (2020). De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics 29(9):1568-1579 Abstract
Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, Li O, Wang H, Bellen HJ (2020). Variants in CAPZA2, a member of a F-actin capping complex, cause intellectual disability and developmental delay. Human Molecular Genetics 29(9):1537-1546 Abstract
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ (2020). Loss- or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms. Neuron 106:589-606 Abstract Recommended by F1000. Neuron 106:551-3, Preview.
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfels JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ*, Xiao B* (2020). De novo variants in CDK19 are associated with a new syndrome with intellectual disability and epileptic encephalopathy. The American Journal of Human Genetics 106(5):717-725 Abstract *co-corresponding authors
Li X, Yang L, Mao Z, Pan X, Zhao Y, Gu X, Eckel-mahan K, Zuo Z, Tong Q, Hartig SM, Cheng X, Du G, Moore DD, Bellen HJ, Sesaki H, Sun K (2020). Novel role of dynamin-related-protein 1 in dynamics of ER-lipid droplets in adipose tissue. The FASEB Journal 34(6):8265-8282 Abstract
Ye H, Ojelade SA, Li-Kroger D, Zuo Z, Wang L, Y Li, Gu JYJ, Tepass U, Rodal AA, Bellen HJ, Shulman JM (2020). Retromer subunit, VPS29, regulates synaptic transmission and is required for endolysosomal function in the aging brain. eLife 9:e91577
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ*, Chao HT* (2020). De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation. The American Journal of Human Genetics 106(4):570-583 Abstract *co-corresponding authors
Bosch JA, Knight S, Kanca O, Zirin J, Yang-Zhou D, Hu Y, Rodiger J, Amador G, Bellen HJ, Perrimon N, Mohr SE (2020). Use of the CRISPR-Cas9 system in Drosophila cultured cells to introduce fluorescent tags into endogenous genes. Current Protocols in Molecular Biology 130(1):e112 Abstract