Publications

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 (2024). Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function Elife 13 RP95887 Abstract

Goodman LD, Ralhan I, Li X, Lu S, Moulton MJ, Park YJ, Zhao P, Kanca O, Ghaderpour Taleghani ZS, Jacquemyn J, Shulman JM, Ando K, Sun K, Ioannou MS, Bellen HJ (2024). Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress Nature Neuroscience 27(10) 1918-1933 Abstract

Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galvan NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ (2024). Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma Genetics in Medicine 101125 Abstract

Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features American Journal of Human Genetics 111(4) 742-760 Abstract

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

Pan X, Dutta D, Lu S, Bellen HJ (2023). Sphingolipids in neurodegenerative diseases Frontiers in Neuroscience 17 1137893 Abstract

Chung HL, Ye Q, Park Y-J, 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

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 W-W, 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

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, Care4Rare Canada Consortium, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ (2022). The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability American Journal of Human Genetics 109(11) 2092 Abstract

Ma M*, Zhang X*, Zheng Y, Lu S, Pan X, Mao X, Pan H, Chung HL, Wang H, Hong Guo H^#, Bellen HJ^# (2022). The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival Human Molecular Genetics DOI:10.1093/hmg/ddac259 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 American Journal of Human Genetics 109(10) 1932-1943 Abstract

Lu S*, Wu Y*, Guo Y*, Liang P*, Yin S*, Yin Y, Zhang X, Liu Y, Wang H, Xiao Y, Liang X, Zhou J (2022). Inhibition of astrocytic DRD2 suppresses CNS inflammation in an animal model of multiple sclerosis Journal of Experimental Medicine DOI: 10.1084/jem.20210998 Abstract

Ma M*, Moulton MJ*, Lu S, Bellen HJ (2022). 'Fly-ing' from rare to common neurodegenerative disease mechanisms Trends in Genetics DOI: 10.1016/j.tig.2022.03.018 Abstract

Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung H, Pan X, Sun X, Oguz M, 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 AJHG DOI: 10.1016/j.ajhg.2022.01.020 Abstract

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, 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 Cerebellum DOI: 10.1007/s12311-022-01379-3 Abstract

Goodman LD, Cope H, Nil Z, Ravenscroft, TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, UDN Consortia, Wangler MF, Yamamoto S, Bellen HJ*, Tan QKG* (2021). De novo TNPO2 variants are associated with developmental delays, neurologic deficits and dysmorphic features in humans and alter TNPO2 activity in Drosophila American Journal of Human Genetics 108(9) 1669-1691 Abstract

Lu SZ*, Guo YS, Liang PZ, Zhang SZ, Yin S, Yin YQ, Wang XM, Ding F, Gu XS, Zhou JW (2019). Suppression of astrocytic autophagy by αB-crystallin contributes to α-synuclein inclusion formation Translational Neurodegeneration 8 3 Abstract

Guo YS, Liang PZ, Lu SZ, Chen R, Yin YQ, Zhou JW (2019). Extracellular αB-crystallin modulates the inflammatory responses Biochemical and Biophysical Research Communications 508 282-288 Abstract

Lu S, Zhou J (2017). Finding the 'Guilty' Gene Variant of Sporadic Parkinson's Disease Via CRISPR/Cas9 Neuroscience Bulletin 33 115-117 Abstract

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 (0). Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms Human Molecular Genetics doi: 10.1093/hmg/ddac070 Abstract