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Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells. 2023 Sep 21;12(18). doi: 10.3390/cells12182330. Review. PubMed PMID: 37759552; PubMed Central PMCID: PMC10529056.
King AP, Ali N, Bellcross C, Ehivet F, Hipp HS, Vaughn J, Allen EG. Healthcare Experiences of African American Women with the Fragile X Premutation. J Racial Ethn Health Disparities. 2023 Sep 15;. doi: 10.1007/s40615-023-01792-2. [Epub ahead of print] PubMed PMID: 37713166; PubMed Central PMCID: PMC11086630.
Malik I, Tseng YJ, Wieland CM, Green KM, Zheng K, Calleja K, Todd PK. Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS. Neurobiol Dis. 2023 Aug;184:106212. doi: 10.1016/j.nbd.2023.106212. Epub 2023 Jun 22. PubMed PMID: 37352983; PubMed Central PMCID: PMC11149892.
Tseng YJ, Malik I, Deng X, Krans A, Jansen-West K, Tank EMH, Gomez NB, Sher R, Petrucelli L, Barmada SJ, Todd PK. Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats. bioRxiv. 2023 Jun 7;. doi: 10.1101/2023.06.07.544135. PubMed PMID: 37333274; PubMed Central PMCID: PMC10274811.
Wright SE, Todd PK. Native functions of short tandem repeats. Elife. 2023 Mar 20;12. doi: 10.7554/eLife.84043. PubMed PMID: 36940239; PubMed Central PMCID: PMC10027321.
Wang ET, Freudenreich CH, Gromak N, Jain A, Todd PK, Nagai Y. What repeat expansion disorders can teach us about the Central Dogma. Mol Cell. 2023 Feb 2;83(3):324-329. doi: 10.1016/j.molcel.2022.12.017. PubMed PMID: 36736306.
Elias-Mas A, Potrony M, Bague J, Cutler DJ, Alvarez-Mora MI, Torres T, Barcos T, Puig-Butille JA, Rubio M, Madrigal I, Puig S, Allen EG, Rodriguez-Revenga L. Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome. Front Aging Neurosci. 2022;14:1073258. doi: 10.3389/fnagi.2022.1073258. eCollection 2022. PubMed PMID: 36688175; PubMed Central PMCID: PMC9853890.
Poteet B, Ali N, Bellcross C, Sherman SL, Espinel W, Hipp H, Allen EG. The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI). J Assist Reprod Genet. 2023 Jan;40(1):179-190. doi: 10.1007/s10815-022-02671-1. Epub 2022 Nov 30. PubMed PMID: 36447079; PubMed Central PMCID: PMC9840735.
Hessl D, Rosselot H, Miller R, Espinal G, Famula J, Sherman SL, Todd PK, Cabal Herrera AM, Lipworth K, Cohen J, Hall DA, Leehey M, Grigsby J, Weber JD, Alusi S, Wheeler A, Raspa M, Hudson T, Sobrian SK. The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness. J Med Genet. 2022 Dec;59(12):1165-1170. doi: 10.1136/jmedgenet-2022-108568. Epub 2022 Jun 14. PubMed PMID: 35701103; PubMed Central PMCID: PMC9691813.
Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A. Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism. Mov Disord. 2022 Nov;37(11):2284-2289. doi: 10.1002/mds.29183. Epub 2022 Aug 16. PubMed PMID: 35971992.
Tosin MHS, Stebbins GT, Goetz CG, Hagerman RJ, Hessl D, Zolecki MA, Todd PK, Leehey MA, Hall DA. Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach. Front Neurol. 2022;13:977380. doi: 10.3389/fneur.2022.977380. eCollection 2022. PubMed PMID: 36188408; PubMed Central PMCID: PMC9515309.
Wright SE, Rodriguez CM, Monroe J, Xing J, Krans A, Flores BN, Barsur V, Ivanova MI, Koutmou KS, Barmada SJ, Todd PK. CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins. Nucleic Acids Res. 2022 Aug 26;50(15):8674-8689. doi: 10.1093/nar/gkac626. PubMed PMID: 35904811; PubMed Central PMCID: PMC9410890.
Green KM, Miller SL, Malik I, Todd PK. Non-canonical initiation factors modulate repeat-associated non-AUG translation. Hum Mol Genet. 2022 Aug 17;31(15):2521-2534. doi: 10.1093/hmg/ddac021. PubMed PMID: 35220421; PubMed Central PMCID: PMC9618161.
Zhang Y, Glineburg MR, Basrur V, Conlon K, Wright SE, Krans A, Hall DA, Todd PK. Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome. Hum Mol Genet. 2022 Jul 21;31(14):2317-2332. doi: 10.1093/hmg/ddab353. PubMed PMID: 35137065; PubMed Central PMCID: PMC9307318.
Kong HE, Lim J, Linsalata A, Kang Y, Malik I, Allen EG, Cao Y, Shubeck L, Johnston R, Huang Y, Gu Y, Guo X, Zwick ME, Qin Z, Wingo TS, Juncos J, Nelson DL, Epstein MP, Cutler DJ, Todd PK, Sherman SL, Warren ST, Jin P. Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2022 May 31;119(22):e2118124119. doi: 10.1073/pnas.2118124119. Epub 2022 May 26. PubMed PMID: 35617426; PubMed Central PMCID: PMC9295734.
Bell HN, Rebernick RJ, Goyert J, Singhal R, Kuljanin M, Kerk SA, Huang W, Das NK, Andren A, Solanki S, Miller SL, Todd PK, Fearon ER, Lyssiotis CA, Gygi SP, Mancias JD, Shah YM. Reuterin in the healthy gut microbiome suppresses colorectal cancer growth through altering redox balance. Cancer Cell. 2022 Feb 14;40(2):185-200.e6. doi: 10.1016/j.ccell.2021.12.001. Epub 2021 Dec 23. PubMed PMID: 34951957; PubMed Central PMCID: PMC8847337.
Hughes DL, Brunn JA, Jacobs J, Todd PK, Askari FK, Fontana RJ. Guillain-Barré Syndrome After COVID-19 mRNA Vaccination in a Liver Transplantation Recipient With Favorable Treatment Response. Liver Transpl. 2022 Jan;28(1):134-137. doi: 10.1002/lt.26279. Epub 2021 Nov 30. PubMed PMID: 34431208; PubMed Central PMCID: PMC8661837.
Malik I, Tseng YJ, Wright SE, Zheng K, Ramaiyer P, Green KM, Todd PK. SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity. EMBO Mol Med. 2021 Nov 8;13(11):e14163. doi: 10.15252/emmm.202114163. Epub 2021 Sep 20. PubMed PMID: 34542927; PubMed Central PMCID: PMC8573603.
Skariah G, Albin RL. Repeat RNA Toxicity Drives Ribosomal RNA Processing Defects in SCA2. Mov Disord. 2021 Nov;36(11):2464-2467. doi: 10.1002/mds.28795. PubMed PMID: 34783387; PubMed Central PMCID: PMC8604384.
Mailick MR, Hong J, Movaghar A, DaWalt L, Berry-Kravis EM, Brilliant MH, Boero J, Todd PK, Hall D. Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort. Mov Disord. 2021 Oct;36(10):2378-2386. doi: 10.1002/mds.28683. Epub 2021 Jun 12. PubMed PMID: 34117786; PubMed Central PMCID: PMC8597892.
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, Hunter JE, Shelly KE, Sherman SL. Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation. Front Psychiatry. 2021;12:715922. doi: 10.3389/fpsyt.2021.715922. eCollection 2021. PubMed PMID: 34658954; PubMed Central PMCID: PMC8517131.
Malik I, Kelley CP, Wang ET, Todd PK. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nat Rev Mol Cell Biol. 2021 Sep;22(9):589-607. doi: 10.1038/s41580-021-00382-6. Epub 2021 Jun 17. Review. PubMed PMID: 34140671; PubMed Central PMCID: PMC9612635.
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, Nolin SL, Glicksman A, Tortora N, McKinnon B, Shelly KE, Sherman SL. Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size. Genet Med. 2021 Sep;23(9):1648-1655. doi: 10.1038/s41436-021-01177-y. Epub 2021 Apr 29. PubMed PMID: 33927378; PubMed Central PMCID: PMC8460441.
Malik I, Kelley CP, Wang ET, Todd PK. Author Correction: Molecular mechanisms underlying nucleotide repeat expansion disorders. Nat Rev Mol Cell Biol. 2021 Sep;22(9):644. doi: 10.1038/s41580-021-00396-0. PubMed PMID: 34230651.
Tseng YJ, Sandwith SN, Green KM, Chambers AE, Krans A, Raimer HM, Sharlow ME, Reisinger MA, Richardson AE, Routh ED, Smaldino MA, Wang YH, Vaughn JP, Todd PK, Smaldino PJ. The RNA helicase DHX36-G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat-associated translation. J Biol Chem. 2021 Aug;297(2):100914. doi: 10.1016/j.jbc.2021.100914. Epub 2021 Jun 24. PubMed PMID: 34174288; PubMed Central PMCID: PMC8326427.
Singh CR, Glineburg MR, Moore C, Tani N, Jaiswal R, Zou Y, Aube E, Gillaspie S, Thornton M, Cecil A, Hilgers M, Takasu A, Asano I, Asano M, Escalante CR, Nakamura A, Todd PK, Asano K. Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism. Cell Rep. 2021 Jul 13;36(2):109376. doi: 10.1016/j.celrep.2021.109376. PubMed PMID: 34260931; PubMed Central PMCID: PMC8363759.
Skariah G, Todd PK. Translational control in aging and neurodegeneration. Wiley Interdiscip Rev RNA. 2021 Jul;12(4):e1628. doi: 10.1002/wrna.1628. Epub 2020 Sep 20. Review. PubMed PMID: 32954679; PubMed Central PMCID: PMC7979572.
Xu K, Li Y, Allen EG, Jin P. Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration. Front Cell Neurosci. 2021;15:655568. doi: 10.3389/fncel.2021.655568. eCollection 2021. PubMed PMID: 34054431; PubMed Central PMCID: PMC8149615.
Glineburg MR, Zhang Y, Krans A, Tank EM, Barmada SJ, Todd PK. Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction. Acta Neuropathol Commun. 2021 Apr 23;9(1):73. doi: 10.1186/s40478-021-01169-8. PubMed PMID: 33892814; PubMed Central PMCID: PMC8063431.
Dijkstra AA, Haify SN, Verwey NA, Prins ND, van der Toorn EC, Rozemuller AJM, Bugiani M, den Dunnen WFA, Todd PK, Charlet-Berguerand N, Willemsen R, Hukema RK, Hoozemans JJM. Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms. Brain Commun. 2021;3(1):fcab007. doi: 10.1093/braincomms/fcab007. eCollection 2021. PubMed PMID: 33709078; PubMed Central PMCID: PMC7936660.
Todd PK. A repeating theme in amyotrophic lateral sclerosis genetics. Neurology. 2020 Dec 15;95(24):1080-1081. doi: 10.1212/WNL.0000000000010959. Epub 2020 Sep 28. PubMed PMID: 32989099.
He F, Flores BN, Krans A, Frazer M, Natla S, Niraula S, Adefioye O, Barmada SJ, Todd PK. The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD. Acta Neuropathol Commun. 2020 Aug 4;8(1):122. doi: 10.1186/s40478-020-01002-8. PubMed PMID: 32753055; PubMed Central PMCID: PMC7401224.
Mackenzie SJ, Lin CC, Todd PK, Burke JF, Callaghan BC. Genetic testing utilization for patients with neurologic disease and the limitations of claims data. Neurol Genet. 2020 Apr;6(2):e405. doi: 10.1212/NXG.0000000000000405. eCollection 2020 Apr. PubMed PMID: 32185241; PubMed Central PMCID: PMC7061285.
Rodriguez CM, Wright SE, Kearse MG, Haenfler JM, Flores BN, Liu Y, Ifrim MF, Glineburg MR, Krans A, Jafar-Nejad P, Sutton MA, Bassell GJ, Parent JM, Rigo F, Barmada SJ, Todd PK. A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis. Nat Neurosci. 2020 Mar;23(3):386-397. doi: 10.1038/s41593-020-0590-1. Epub 2020 Feb 17. PubMed PMID: 32066985; PubMed Central PMCID: PMC7668390.
Green KM, Sheth UJ, Flores BN, Wright SE, Sutter AB, Kearse MG, Barmada SJ, Ivanova MI, Todd PK. High-throughput screening yields several small-molecule inhibitors of repeat-associated non-AUG translation. J Biol Chem. 2019 Dec 6;294(49):18624-18638. doi: 10.1074/jbc.RA119.009951. Epub 2019 Oct 23. PubMed PMID: 31649034; PubMed Central PMCID: PMC6901296.
Krans A, Skariah G, Zhang Y, Bayly B, Todd PK. Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome. Acta Neuropathol Commun. 2019 Oct 30;7(1):152. doi: 10.1186/s40478-019-0782-7. PubMed PMID: 31665086; PubMed Central PMCID: PMC6821001.
Sacino AN, Prokop S, Walsh MA, Adamson J, Subramony SH, Krans A, Todd PK, Giasson BI, Yachnis AT. Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology. Acta Neuropathol Commun. 2019 Oct 30;7(1):158. doi: 10.1186/s40478-019-0818-z. PubMed PMID: 31665069; PubMed Central PMCID: PMC6820960.
Linsalata AE, He F, Malik AM, Glineburg MR, Green KM, Natla S, Flores BN, Krans A, Archbold HC, Fedak SJ, Barmada SJ, Todd PK. DDX3X and specific initiation factors modulate FMR1 repeat-associated non-AUG-initiated translation. EMBO Rep. 2019 Sep;20(9):e47498. doi: 10.15252/embr.201847498. Epub 2019 Jul 25. PubMed PMID: 31347257; PubMed Central PMCID: PMC6726903.
Kearse MG, Goldman DH, Choi J, Nwaezeapu C, Liang D, Green KM, Goldstrohm AC, Todd PK, Green R, Wilusz JE. Ribosome queuing enables non-AUG translation to be resistant to multiple protein synthesis inhibitors. Genes Dev. 2019 Jul 1;33(13-14):871-885. doi: 10.1101/gad.324715.119. Epub 2019 Jun 6. PubMed PMID: 31171704; PubMed Central PMCID: PMC6601509.
Rodriguez CM, Chun SY, Mills RE, Todd PK. Translation of upstream open reading frames in a model of neuronal differentiation. BMC Genomics. 2019 May 20;20(1):391. doi: 10.1186/s12864-019-5775-1. PubMed PMID: 31109297; PubMed Central PMCID: PMC6528255.
Haenfler JM, Skariah G, Rodriguez CM, Monteiro da Rocha A, Parent JM, Smith GD, Todd PK. Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells. Front Mol Neurosci. 2018;11:282. doi: 10.3389/fnmol.2018.00282. eCollection 2018. PubMed PMID: 30158855; PubMed Central PMCID: PMC6104480.
Glineburg MR, Todd PK, Charlet-Berguerand N, Sellier C. Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome. Brain Res. 2018 Aug 15;1693(Pt A):43-54. doi: 10.1016/j.brainres.2018.02.006. Epub 2018 Feb 14. Review. PubMed PMID: 29453961; PubMed Central PMCID: PMC6010627.
Green KM, Glineburg MR, Kearse MG, Flores BN, Linsalata AE, Fedak SJ, Goldstrohm AC, Barmada SJ, Todd PK. RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response. Nat Commun. 2017 Dec 8;8(1):2005. doi: 10.1038/s41467-017-02200-0. PubMed PMID: 29222490; PubMed Central PMCID: PMC5722904.
Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5. PubMed PMID: 28065649; PubMed Central PMCID: PMC5263258.
Krans A, Kearse MG, Todd PK. Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome. Ann Neurol. 2016 Dec;80(6):871-881. doi: 10.1002/ana.24800. Epub 2016 Nov 26. PubMed PMID: 27761921; PubMed Central PMCID: PMC5177492.
Chun SY, Rodriguez CM, Todd PK, Mills RE. SPECtre: a spectral coherence--based classifier of actively translated transcripts from ribosome profiling sequence data. BMC Bioinformatics. 2016 Nov 25;17(1):482. doi: 10.1186/s12859-016-1355-4. PubMed PMID: 27884106; PubMed Central PMCID: PMC5123373.
Flores BN, Dulchavsky ME, Krans A, Sawaya MR, Paulson HL, Todd PK, Barmada SJ, Ivanova MI. Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity. PLoS One. 2016;11(10):e0165084. doi: 10.1371/journal.pone.0165084. eCollection 2016. PubMed PMID: 27776165; PubMed Central PMCID: PMC5077081.
Yang WY, He F, Strack RL, Oh SY, Frazer M, Jaffrey SR, Todd PK, Disney MD. Small Molecule Recognition and Tools to Study Modulation of r(CGG)(exp) in Fragile X-Associated Tremor Ataxia Syndrome. ACS Chem Biol. 2016 Sep 16;11(9):2456-65. doi: 10.1021/acschembio.6b00147. Epub 2016 Jul 11. PubMed PMID: 27276216; PubMed Central PMCID: PMC5549791.
Green KM, Linsalata AE, Todd PK. RAN translation-What makes it run?. Brain Res. 2016 Sep 15;1647:30-42. doi: 10.1016/j.brainres.2016.04.003. Epub 2016 Apr 6. Review. PubMed PMID: 27060770; PubMed Central PMCID: PMC5003667.
He F, Jones JM, Figueroa-Romero C, Zhang D, Feldman EL, Goutman SA, Meisler MH, Callaghan BC, Todd PK. Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci. Neurol Genet. 2016 Jun;2(3):e71. doi: 10.1212/NXG.0000000000000071. eCollection 2016 Jun. PubMed PMID: 27274540; PubMed Central PMCID: PMC4865132.
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