25 publications found.
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Mele S, Martelli F, Lin J, Kanca O, Christodoulou J, Bellen HJ, Piper M, Johnson T (2022). Drosophila as a diet discovery tool for treating amino acid disorders. Trends in Endocrinology and Metabolism 34(2):85-105 Abstract
Ray SS, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, Glazar P, Zhang X, Biswas P, Caporale JR, Rajewsky N, Bickle M, Wein N, Bellen HJ, Likhite S, Marcogliese PC, Meyer KC (2022). Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy. Cell Reports 41(10):111751
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkin3 M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Undiagnosed Disease Network (UDN), Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardon S, Eichler F, Dunn TM (2022). SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain 146(4):1420-1435 Abstract
Bosch JA, Ugur B, Pichardo-Casas I, Rabasco J, Escobedo F, Zuo Z, Brown B, Celniker S, Sinclair DA, Bellen HJ, Perrimon N (2022). Two neuronal peptides encoded from a single transcript regulate mitochondrial complex III in Drosophila. eLife 11:e82709 Abstract
Karagas N, Gupta R, Rastegari E, Tan KL, Leung HH, Bellen HJ, Venkatachalam K, Wong CO (2022). Loss of activity-induced mitochondrial ATP production underlies the synaptic defects in a Drosophila model of ALS. Journal of Neuroscience 42(42):8019-8037 Abstract
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y#, Bellen HJ# (2022). De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia and abnormalities of eye movement. The American Journal of Human Genetics 109(10):1932-1943 Abstract #co-corresponding authors
Huang Y*, Lemire G*, Briere LC*, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Undiagnosed Diseases Network (UDN), Care4Rare Canada Consortium, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ (2022). The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. The American Journal of Human Genetics (109(10)):1923-1931 Abstract *contributed equally
Cheng KC, Burdine RD, Dickinson ME, Ekker SC, Lin AY, Kent Lloyd KC, Lutz CM, MacRae CA, Morrison JH, O'Connor D, Postlethwait JH, Rogers CD, Sanchez S, Simpson JH, Talbot WS, Wallace DC, Weimer JM, Bellen HJ (2022). Promoting validation and cross-phylogenetic integration in model organism research. Disease Models & Mechanisms 15(9):dmm049600 Abstract
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Undiagnosed Diseases Network (UDN), Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ (2022). The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics 31(17):2934-2950 Abstract
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Cara GD, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM (2022). ANKLE2-related microcephaly: a variable disorder resembling Zika infection. Annals of Clinical and Translational Neurology 9(8):1276-1288 Abstract
Wang L, Lin G, Zuo Z, Li Y, Byeon SK, Pandey A, Bellen HJ (2022). Neuronal activity induces Glucosylceramide that is secreted via exosomes for lysosomal degradation in glia. Science Advances 8(28):eabn3326 Abstract
Deshpande SA, Rohrbach EW, Asuncion JD, Harrigan J, Eamani A, Schlingmann EH, Suto DJ, Lee PT, Schweizer FE, Bellen HJ, Krantz DE (2022). Regulation of Drosophila oviduct muscle contractility by octopamine. iScience 25(8):104697 Abstract
Kanca O, Zirin J, Hu Y, Tepe B, Dutta D, Lin WW, Ma L, Ge M, Zuo Z, Liu LP, Levis RW, Perrimon N, Bellen HJ (2022). An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR mediated homologous recombination. eLife 11:e76077 Abstract
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, MAE working group of EuroEPINOMICS RES Consortium, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ (2022). De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathy. Brain 145(5):1684-1697 Abstract
Wang Y, Lobb-Rabe M, Ashley J, Chatterjee P, Anand V, Bellen HJ, Kanca O, Carrillo R (2022). Systematic expression profiling of dprs and DIPs reveals cell surface codes in Drosophila larval motor and sensory neurons. Development 149(10):dev200355 Abstract
Ma M*, Moulton MJ*, Lu S, Bellen HJ (2022). 'Fly-ing' from rare to common neurodegenerative disease mechanisms. Trends in Genetics 38(9):972-984 Abstract *contributed equally
Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ (2022). Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Human Molecular Genetics 31(16):2751-2765 Abstract
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK#, Bellen HJ# (2022). Loss of function variants in TIAM1 are associated with developmental delay, intellectual disability and seizures. The American Journal of Human Genetics 109(4):571-586 Abstract #co-corresponding authors
Accogli A*, Lu S*, Musante I*, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura A, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Cali E, Aliberto E, Gambardella A, Undiagnosed Diseases Network (UDN), SYNaPS Study Group, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V (2022). Loss of Neuron Navigator 2 impairs brain and cerebellar development. The Cerebellum 22(2):206-222 Abstract *contributed equally
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen HJ#, Harel T# (2022). De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Human Molecular Genetics 31(19):3231-3244 Abstract #co-corresponding authors
Cristobal CD, Wang CY, Zuo Z, Smith JA, Lindeke-Myers A, Bellen HJ, Lee HK (2022). Daam2 regulates myelin structure and the oligodendrocyte actin cytoskeleton through Rac1 and Gelsolin. Journal of Neuroscience 42(9):1679-1691 Abstract
Bellen HJ (2022). Lord of the fruit flies: an interview with Hugo Bellen. Disease Models & Mechanisms 15(3):dmm049500 Abstract
Harnish JM, Li LK, Rogic S, Piorier-Morency G, Kim SY, Undiagnosed Diseases Network (UDN), Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S (2022). ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Human Mutation 43(6):743-759 Abstract
Martelli F, Hernandes NH, Zuo Z, Wang J, Wong CO, Karagas NE, Roessner U, Rupasinhe T, Robin C, Venkatachalam K, Perry T, Batterham P, Bellen HJ (2022). Low doses of the organic insecticide spinosad trigger lysosomal defects, ROS driven lipid dysregulation and neurodegeneration in flies. eLife 11:e73812 Abstract
Marcogliese PC*#, Dutta D*, Sinha-Ray S, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung HL, Kanca O, Wan JJ, Douine ED, Undiagnosed Diseases Network (UDN), Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ# (2022). Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances 8(3):eabl5613 Abstract *co-first authors and #co-corresponding authors