Publications
Early-Onset Familial Alzheimer Disease Variant PSEN2 N141I Heterozygosity is Associated with Altered Microglia Phenotype. Susan Fung , Carole L Smith, Katherine E Prater , Amanda Case, Kevin Green, Leah Osnis, Chloe Winston, Yoshito Kinoshita, Bryce Sopher, Richard S Morrison, Gwenn A Garden , Suman Jayadev. J Alzheimers Dis. 2020;77(2):675-688. doi: 10.3233/JAD-200492.
Subtype transcriptomic profiling of myeloid cells in Alzheimer Disease brain illustrates the diversity in active microglia phenotypes. Katherine E. Prater, Kevin J. Green, Carole L. Smith, Wei Sun, Kenneth L. Chiou, Ronald Y. Kwon, Laura Heath, Shannon Rose, Ali Shojaie, Noah Snyder-Mackler, C. Dirk Keene, Elizabeth Blue, Jessica E. Young, Benjamin Logsdon, Gwenn A. Garden, Suman Jayadev
doi: https://doi.org/10.1101/2021.10.25.465802 BioRxiv
Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
Sytsma TM, Chen DH, Rolf B, Dorschner M, Jayadev S, Keene CD, Zhang J, Bird TD, Latimer CS.Neuropathology. 2021 Nov 9. doi: 10.1111/neup.12775. Online ahead of print.PMID: 34753215
Alzheimer’s Disease Diagnostics Must Be Globally Accessible.
Clute-Reinig N, Jayadev S, Rhoads K, Ny AL.J Alzheimers Dis. 2021 Oct 20. doi: 10.3233/JAD-210663. Online ahead of print.PMID: 34690142
Glial TDP-43 and TDP-43 induced glial pathology, focus on neurodegenerative proteinopathy syndromes.
Prater KE, Latimer CS, Jayadev S.Glia. 2021 Sep 24. doi: 10.1002/glia.24096. Online ahead of print.
High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington’s Disease: A Self-Reported Questionnaire Study.
Vicars BG, Liu AB, Holt S, Jayadev S, Bird T, Yang CC.J Pers Med. 2021 Jul 25;11(8):714. doi: 10.3390/jpm11080714.
Subdural Hematoma as a Serious Complication of Huntington’s Disease: An Observational Study.
Davis M, Wheelock V, Talman L, Latimer C, Vicars B, Lin A, Jayadev S, Bird T.J Huntingtons Dis. 2021;10(3):385-390. doi: 10.3233/JHD-210478.
The pro-inflammatory microRNA miR-155 influences fibrillar β-Amyloid1 -42 catabolism by microglia.
Aloi MS, Prater KE, Sopher B, Davidson S, Jayadev S, Garden GA.Glia. 2021 Jul;69(7):1736-1748. doi: 10.1002/glia.23988. Epub 2021 Mar 10.PMID: 33694209
Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing.
Rolf B, Blue EE, Bucks S, Dorschner MO, Jayadev S.J Genet Couns. 2021 Jun;30(3):793-802. doi: 10.1002/jgc4.1379. Epub 2021 Jan 3.PMID: 33393146
Molecular estimation of neurodegeneration pseudotime in older brains.
Mukherjee S, Heath L, Preuss C, Jayadev S, Garden GA, Greenwood AK, Sieberts SK, De Jager PL, Ertekin-Taner N, Carter GW, Mangravite LM, Logsdon BA.Nat Commun. 2020 Nov 13;11(1):5781. doi: 10.1038/s41467-020-19622-y.PMID: 33188183
Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson’s disease.
Lorenzo-Betancor O, Lin YH, Samii A, Jayadev S, Kim HM, Longfellow K, Distad BJ, Yearout D, Mata IF, Zabetian CP.Parkinsonism Relat Disord. 2020 Nov;80:142-147. doi: 10.1016/j.parkreldis.2020.09.035. Epub 2020 Sep
Evolution of a Human-Specific Tandem Repeat Associated with ALS.
Course MM, Gudsnuk K, Smukowski SN, Winston K, Desai N, Ross JP, Sulovari A, Bourassa CV, Spiegelman D, Couthouis J, Yu CE, Tsuang DW, Jayadev S, Kay MA, Gitler AD, Dupre N, Eichler EE, Dion PA, Rouleau GA, Valdmanis PN.
Loss of presenilin 2 age-dependently alters susceptibility to acute seizures and kindling acquisition.
Beckman M, Knox K, Koneval Z, Smith C, Jayadev S, Barker-Haliski M.Neurobiol Dis. 2020 Mar;136:104719. doi: 10.1016/j.nbd.2019.104719. Epub 2019 Dec 17
Accelerated loss of hypoxia response in zebrafish with familial Alzheimer’s disease-like mutation of presenilin 1.
Newman M, Nik HM, Sutherland GT, Hin N, Kim WS, Halliday GM, Jayadev S, Smith C, Laird AS, Lucas CW, Kittipassorn T, Peet DJ, Lardelli M.
Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer’s disease and MAPT frontotemporal dementia.
Yu CE, Chen S, Jayadev S, Bird T.J Neurol Sci. 2020 Nov 15;418:117143. doi: 10.1016/j.jns.2020.117143. Epub 2020 Sep 18.
Depletion of the AD Risk Gene SORL1 Selectively Impairs Neuronal Endosomal Traffic Independent of Amyloidogenic APP Processing.
Knupp A, Mishra S, Martinez R, Braggin JE, Szabo M, Kinoshita C, Hailey DW, Small SA, Jayadev S, Young JE.Cell Rep. 2020 Jun 2;31(9):107719. doi: 10.1016/j.celrep.2020.107719.PMID: 32492427
Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.
Chen DH, Latimer C, Yagi M, Ndugga-Kabuye MK, Heigham E, Jayadev S, Meabon JS, Gomez CM, Keene CD, Cook DG, Raskind WH, Bird TD.
Resistance and resilience to Alzheimer’s disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort.
Latimer CS, Burke BT, Liachko NF, Currey HN, Kilgore MD, Gibbons LE, Henriksen J, Darvas M, Domoto-Reilly K, Jayadev S, Grabowski TJ, Crane PK, Larson EB, Kraemer BC, Bird TD, Keene CD.Acta Neuropathol Commun. 2019 Jun 7;7(1):91. doi: 10.1186/s40478-019-0743-1.PMID: 31174609
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L, Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C, Grabowski T, Nik SHM, Newman M, Garden GA, Leverenz JB, Tsuang D, Latimer C, Gonzalez-Cuyar LF, Keene CD, Morrison RS, Rhoads K, Wijsman EM, Dorschner MO, Lardelli M, Young JE, Valdmanis PN, Bird TD, Jayadev S.Ann Clin Transl Neurol. 2019 Mar 10;6(4):762-777. doi: 10.1002/acn3.755. eCollection 2019 Apr.PMID: 31020001
A Review of the Familial Alzheimer’s Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1.
Jiang H, Jayadev S, Lardelli M, Newman M.J Alzheimers Dis. 2018;66(4):1323-1339. doi: 10.3233/JAD-180656.PMID: 30412492 Review.
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
Duell PB, Salen G, Eichler FS, DeBarber AE, Connor SL, Casaday L, Jayadev S, Kisanuki Y, Lekprasert P, Malloy MJ, Ramdhani RA, Ziajka PE, Quinn JF, Su KG, Geller AS, Diffenderfer MR, Schaefer EJ.J Clin Lipidol. 2018 Sep-Oct;12(5):1169-1178. doi: 10.1016/j.jacl.2018.06.008. Epub 2018 Jun 22.PMID: 30017468[ ] 47
A Genetic Study of Psychosis in Huntington’s Disease: Evidence for the Involvement of Glutamate Signaling Pathways.
Tsuang DW, Greenwood TA, Jayadev S, Davis M, Shutes-David A, Bird TD.J Huntingtons Dis. 2018;7(1):51-59. doi: 10.3233/JHD-170277.PMID: 29480208
Inducible CRISPR genome editing platform in naive human embryonic stem cells reveals JARID2 function in self-renewal.
Ferreccio A, Mathieu J, Detraux D, Somasundaram L, Cavanaugh C, Sopher B, Fischer K, Bello T, M Hussein A, Levy S, Cook S, Sidhu SB, Artoni F, Palpant NJ, Reinecke H, Wang Y, Paddison P, Murry C, Jayadev S, Ware C, Ruohola-Baker H.Cell Cycle. 2018;17(5):535-549. doi: 10.1080/15384101.2018.1442621. Epub 2018 Apr 5.PMID: 29466914
Quantitative cerebrovascular pathology in a community-based cohort of older adults.
Rane S, Koh N, Boord P, Madhyastha T, Askren MK, Jayadev S, Cholerton B, Larson E, Grabowski TJ.Neurobiol Aging. 2018 May;65:77-85. doi: 10.1016/j.neurobiolaging.2018.01.006. Epub 2018 Jan 31.PMID: 29452984
Novel pregnancy-triggered episodes of CAPOS syndrome.
Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA.Am J Med Genet A. 2018 Jan;176(1):235-240. doi: 10.1002/ajmg.a.38502. Epub 2017 Nov 1.PMID: 29090527
Neuropathological Comparison of Adult Onset and Juvenile Huntington’s Disease with Cerebellar Atrophy: A Report of a Father and Son.
Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, Hoffer ZS, Montine TJ, Gonzalez-Cuyar LF, Bird TD, Keene CD.J Huntingtons Dis. 2017;6(4):337-348. doi: 10.3233/JHD-170261.PMID: 29036832
Enhanced retinal responses in Huntington’s disease patients.
Pearl JR, Heath LM, Bergey DE, Kelly JP, Smith C, Laurino MY, Weiss A, Price ND, LaSpada A, Bird TD, Jayadev S.J Huntingtons Dis. 2017;6(3):237-247. doi: 10.3233/JHD-170255.PMID: 28968243
Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra.
Turk KW, Flanagan ME, Josephson S, Keene CD, Jayadev S, Bird TD.Cerebellum. 2018 Apr;17(2):143-151. doi: 10.1007/s12311-017-0882-5.PMID: 28887803
Modulation of Hematopoietic Lineage Specification Impacts TREM2 Expression in Microglia-Like Cells Derived From Human Stem Cells.
Amos PJ, Fung S, Case A, Kifelew J, Osnis L, Smith CL, Green K, Naydenov A, Aloi M, Hubbard JJ, Ramakrishnan A, Garden GA, Jayadev S.ASN Neuro. 2017 Jul-Aug;9(4):1759091417716610. doi: 10.1177/1759091417716610.PMID: 28683563
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD. “R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study” JAMA Neurol. 2015 Aug 1;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979.
Wang DB, Kinoshita Y, Kinoshita C, Uo T, Sopher BL, Cudaback E, Keene CD, Bilousova T, Gylys K, Case A, Jayadev S, Wang HG, Garden GA, Morrison RS. “Loss of endophilin-B1 exacerbates Alzheimer’s disease pathology.” Brain. 2015 Jul;138(Pt 7):2005-19. doi: 10.1093/brain/awv128. Epub 2015 May 16.
Davis MY, Keene CD, Jayadev S, Bird T. “The co-occurrence of Alzheimer’s disease and Huntington’s disease: a neuropathological study of 15 elderly Huntington’s disease subjects.” J Huntingtons Dis. 2014;3(2):209-17. doi: 10.3233/JHD-140111.
Su W, Hopkins S, Nesser NK, Sopher B, Silvestroni A, Ammanuel S, Jayadev S, Möller T, Weinstein J, Garden GA “The p53 Transcription Factor Modulates Microglia Behavior through MicroRNA-Dependent Regulation of c-Maf” J Immunol. 2014 Jan 1;192(1):358-66. doi: 10.4049/jimmunol.1301397.
Jayadev S, Case A, Alajajian B, Eastman AJ, Möller T, Garden GA “Presenilin 2 influences miR146 level and activity in microglia” J Neurochem. 2013 doi: 10.1111/jnc.12400.
Jayadev S, Bird TD. “Hereditary ataxias: overview.” Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Review.
Jayadev S, Nesser N, Seaburg LA, Lee R, Murphy SP, Hopkins S, Case A, Uo T, Morrison RS, Meyers S, Garden GA “The Transcription Factor p53 Influences Microglia Activation Phenotype”. Glia. 2011 Oct;59(10):1402-13.
Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB. “Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.” Ann Neurol. 2011 Apr;69(4):712-20. doi: 10.1002/ana.22264. Epub 2011 Mar 17.
Jayadev S, Case A, Eastman AJ, Nguyen H, Pollak J, Wiley JC, Moeller T, Morrison RS, Garden GA. “Presenilin 2 is the Predominant γ-secretase in Microglia and Modulates Cytokine Release”. PLoS ONE. 2010 Dec 29;5(12):e15743.
Jayadev S, Leverenz JB, Steinbart EJ, Stahl J, Klunk W, Bird TD. “Alzheimer disease phenotypes and genotypes with mutations in presenilin 2”. 2010 Brain. Apr;133(Pt 4):1143-54.