Publications

1. Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.. European journal of human genetics : EJHG, 2024.
2. Yamakawa M, Rexach JE. Cell States and Interactions of CD8 T Cells and Disease-Enriched Microglia in Human Brains with Alzheimer's Disease.. Biomedicines, 2024.
3. Sexton CE, Bitan G, Bowles KR, Brys M, Buée L, Maina MB, Clelland CD, Cohen AD, Crary JF, Dage JL, Diaz K, Frost B, Gan L, Goate AM, Golbe LI, Hansson O, Karch CM, Kolb HC, La Joie R, Lee SE, Matallana D, Miller BL, Onyike CU, Quiroz YT, Rexach JE, Rohrer JD, Rommel A, Sadri-Vakili G, Schindler SE, Schneider JA, Sperling RA, Teunissen CE, Weninger SC, Worley SL, Zheng H, Carrillo MC. Novel avenues of tau research.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024.
4. Rexach JE, Cheng Y, Chen L, Polioudakis D, Lin LC, Mitri V, Elkins A, Yin A, Calini D, Kawaguchi R, Ou J, Huang J, Williams C, Robinson J, Gaus SE, Spina S, Lee EB, Grinberg LT, Vinters H, Trojanowski JQ, Seeley WW, Malhotra D, Geschwind DH. Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics.. bioRxiv : the preprint server for biology, 2023.
5. Saloner R, Paolillo EW, Wojta KJ, Fonseca C, Gontrum EQ, Lario-Lago A, Rabinovici GD, Yokoyama JS, Rexach JE, Kramer JH, Casaletto KB. Sex-specific effects of SNAP-25 genotype on verbal memory and Alzheimer's disease biomarkers in clinically normal older adults.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023.
6. Houser MC, Uriarte Huarte O, Wallings RL, Keating CE, MacPherson KP, Herrick MK, Kannarkat GT, Kelly SD, Chang J, Varvel NH, Rexach JE, Tansey MG. Progranulin loss results in sex-dependent dysregulation of the peripheral and central immune system.. Frontiers in immunology, 2022.
7. Li J, Pan L, Pembroke WG, Rexach JE, Godoy MI, Condro MC, Alvarado AG, Harteni M, Chen YW, Stiles L, Chen AY, Wanner IB, Yang X, Goldman SA, Geschwind DH, Kornblum HI, Zhang Y. Conservation and divergence of vulnerability and responses to stressors between human and mouse astrocytes.. Nature communications, 2021.
8. Lall D, Lorenzini I, Mota TA, Bell S, Mahan TE, Ulrich JD, Davtyan H, Rexach JE, Muhammad AKMG, Shelest O, Landeros J, Vazquez M, Kim J, Ghaffari L, O'Rourke JG, Geschwind DH, Blurton-Jones M, Holtzman DM, Sattler R, Baloh RH. C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.. Neuron, 2021.
9. Rexach JE, Polioudakis D, Yin A, Swarup V, Chang TS, Nguyen T, Sarkar A, Chen L, Huang J, Lin LC, Seeley W, Trojanowski JQ, Malhotra D, Geschwind DH. Tau Pathology Drives Dementia Risk-Associated Gene Networks toward Chronic Inflammatory States and Immunosuppression.. Cell reports, 2020.
10. Lindbergh CA, Casaletto KB, Staffaroni AM, La Joie R, Iaccarino L, Edwards L, Tsoy E, Elahi F, Walters SM, Cotter D, You M, Apple AC, Asken B, Neuhaus J, Rexach JE, Wojta KJ, Rabinovici G, Kramer JH, Hillblom Aging Network. Sex-related differences in the relationship between β-amyloid and cognitive trajectories in older adults.. Neuropsychology, 2020.
11. Rexach J, Geschwind D. Selective Neuronal Vulnerability in Alzheimer's Disease: A Modern Holy Grail.. Neuron, 2020.
12. Ringman JM, Qiao Y, Garbin A, Fisher BE, Fogel B, Watari Knoell K, Chui HC, Shi Y, Rexach JE. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene.. Neurocase, 2020.
13. Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).. Journal of child neurology, 2020.
14. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.. Human mutation, 2019.
15. Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.. Neurology. Genetics, 2019.
16. Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. Clinical application of next-generation sequencing to the practice of neurology.. The Lancet. Neurology, 2019.
17. Lee H, Martinez-Agosto JA, Rexach J, Fogel BL. Next generation sequencing in clinical diagnosis.. The Lancet. Neurology, 2019.
18. Swarup V, Hinz FI, Rexach JE, Noguchi KI, Toyoshiba H, Oda A, Hirai K, Sarkar A, Seyfried NT, Cheng C, Haggarty SJ, International Frontotemporal Dementia Genomics Consortium, Grossman M, Van Deerlin VM, Trojanowski JQ, Lah JJ, Levey AI, Kondou S, Geschwind DH. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.. Nature medicine, 2018.
19. Wang AC, Jensen EH, Rexach JE, Vinters HV, Hsieh-Wilson LC. Loss of O-GlcNAc glycosylation in forebrain excitatory neurons induces neurodegeneration.. Proceedings of the National Academy of Sciences of the United States of America, 2016.
20. Trikamji B, Rexach J, Mishra SK. A Case of Spinocerebellar Ataxia With a Reversible Splenium Lesion Due to Malnutrition and Vitamin Deficiency.. Journal of clinical neuromuscular disease, 2015.
21. Clark PM, Rexach JE, Hsieh-Wilson LC. Visualization of O-GlcNAc glycosylation stoichiometry and dynamics using resolvable poly(ethylene glycol) mass tags.. Current protocols in chemical biology, 2013.
22. Rexach JE, Clark PM, Mason DE, Neve RL, Peters EC, Hsieh-Wilson LC. Dynamic O-GlcNAc modification regulates CREB-mediated gene expression and memory formation.. Nature chemical biology, 2012.
23. Rexach JE, Rogers CJ, Yu SH, Tao J, Sun YE, Hsieh-Wilson LC. Quantification of O-glycosylation stoichiometry and dynamics using resolvable mass tags.. Nature chemical biology, 2010.
24. Rexach JE, Clark PM, Hsieh-Wilson LC. Chemical approaches to understanding O-GlcNAc glycosylation in the brain.. Nature chemical biology, 2008.
25. Khidekel N, Ficarro SB, Clark PM, Bryan MC, Swaney DL, Rexach JE, Sun YE, Coon JJ, Peters EC, Hsieh-Wilson LC. Probing the dynamics of O-GlcNAc glycosylation in the brain using quantitative proteomics.. Nature chemical biology, 2007.
26. Rexach J, Fernández E, Galván A. The Chlamydomonas reinhardtii Nar1 gene encodes a chloroplast membrane protein involved in nitrite transport.. The Plant cell, 2000.