Postdoctoral fellow
Early onset rare diseases may be a more severe manifestation of neurodegenerative disorders in advance. I am interested in identifying genes involved in undiagnosed rare diseases using Drosophila as a model. I hope to take advantage of this simplified but sophisticated system to look into conserved mechanisms, so as to help understanding and therapy of the diseases.
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
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
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
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
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
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 doi: 10.1093/hmg/ddac070 Abstract
Dai J, Estrada B, Jacobs S, Sánchez-Sánchez BJ, Tang J, Ma M, Magadán-Corpas P, Pastor-Pareja JC, Martín-Bermudo MD (2018). Dissection of Nidogen function in Drosophila reveals tissue-specific mechanisms of basement membrane assembly PLoS Genetics 14 e1007483 Abstract
Ke H, Feng Z, Liu M, Sun T, Dai J, Ma M, Liu LP, Ni JQ, Pastor-Pareja JC (2018). Collagen secretion screening in Drosophila supports a common secretory machinery and multiple Rab requirements Journal of Genetics and Genomics 45 299-313 Abstract
Dai J, Ma M, Feng Z, Pastor-Pareja JC (2017). Inter-adipocyte adhesion and signaling by Collagen IV intercellular concentrations in Drosophila Current Biology 27 2729-2740 Abstract
Ma M, Cao X, Dai J, Pastor-Pareja JC (2017). Basement membrane manipulation in Drosophila wing discs affects Dpp retention but not growth mechanoregulation Developmental Cell 42 97-106 Abstract