Publications

Link to all Todd lab articles in Pubmed

2025

TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms.

Dykstra MM, Weskamp K, Gómez NB, Waksmacki J, Tank E, Glineburg MR, Snyder A, Pinarbasi E, Bekier M, Li X, Miller MR, Bai J, Shahzad S, Nedumaran N, Wieland C, Stewart C, Willey S, Grotewold N, McBride J, Moran JJ, Suryakumar AV, Lucas M, Tessier PM, Ward M, Todd PK, Barmada SJ.

Cell Reports 2025 Jan 28;44(1):115113.

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.

Van Deynze K, Mumm C, Maltby CJ, Switzenberg JA, Todd PK, Boyle AP.

Nucleic Acids Resarch  2025 Jan 11;53(2):gkae1202. 

2024

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons.

Maltby CJ, Krans A, Grudzien SJ, Palacios Y, Muiños J, Suárez A, Asher M, Willey S, Van Deynze K, Mumm C, Boyle AP, Cortese A, Ndayisaba A, Khurana V, Barmada SJ, Dijkstra AA, Todd PK.

Sci ence Advances 2024 Sep 6;10(36):eadn2321. 

bioRxiv [Preprint]. 2023 Dec 14:2023.12.13.571345. 

Stress granule formation helps to mitigate neurodegeneration.

Glineburg MR, Yildirim E, Gomez N, Rodriguez G, Pak J, Li X, Altheim C, Waksmacki J, McInerney GM, Barmada SJ, Todd PK.

Nucleic Acids Res. 2024 Sep 9;52(16):9745-9759. 

bioRxiv [Preprint]. 2023 Nov 11:2023.11.07.566060.   

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats. 

Tseng YJ, Krans A, Malik I, Deng X, Yildirim E, Ovunc S, Tank EMH, Jansen-West K, Kaufhold R, Gomez NB, Sher R, Petrucelli L, Barmada SJ, Todd PK. 

Nucleic Acids Research 2024 Feb 27:gkae137.  

2023

Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS.

Malik I, Tseng YJ, Wieland CM, Green KM, Zheng K, Calleja K, Todd PK.

Neurobiol Dis. 2023 Aug;184:106212

Native functions of short tandem repeats.

Wright SE, Todd PK.

Elife. 2023 Mar 20;12:e84043.

What repeat expansion disorders can teach us about the Central Dogma.

Wang ET, Freudenreich CH, Gromak N, Jain A, Todd PK, Nagai Y.

Molecular Cell. 2023 Feb 2;83(3):324-329. 

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. 

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. 

Cells. 2023 Sep 21;12(18):2330.

2022

CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins.

Wright SE, Rodriguez CM, Monroe J, Xing J, Krans A, Flores BN, Barsur V, Ivanova MI, Koutmou KS, Barmada SJ, Todd PK.

Nucleic Acids Research. 2022 Jul 29:gkac626.

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.

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.

J Med Genetics. 2022 Jun 14:jmedgenet-2022-108568. 

Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach.

Tosin MHS, Stebbins GT, Goetz CG, Hagerman RJ, Hessl D, Zolecki MA, Todd PK, Leehey MA, Hall DA.

Front Neurology. 2022 Sep 14;13:977380. 2022.

Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism.

Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A.

Mov Disorders. 2022 Nov;37(11):2284-2289.

Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.  

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.  

Proc Natl Acad Sci U S A. 2022 May 31;119(22):e2118124119. 

Non-canonical initiation factors modulate repeat-associated non-AUG translation.

Green KM, Miller SL, Malik I, Todd PK.

Hum Mol Genet. 2022 Feb 26. doi: 10.1093/hmg/ddac021. 

Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.

Zhang Y, Glineburg MR, Basrur V, Conlon K, Wright SE, Krans A, Hall DA, Todd PK.

Hum Mol Genet. 2022 Feb 8:ddab353. 

Reuterin in the healthy gut microbiome suppresses colorectal cancer growth through altering redox balance.

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.  

Cancer Cell. 2022 Feb 14;40(2):185-200.e6 

2021

SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity

Indranil Malik, Yi-Ju Tseng, Shannon E. Wright, Kristina Zheng, Prithika Ramaiyer, Katelyn M. Green, Peter K. Todd .  

EMBO Mol Med (2021)13:e14163   

Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism.

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.  

Cell Rep. 2021 Jul 13;36(2):109376.  

Molecular mechanisms underlying nucleotide repeat expansion disorders.

Malik I.*, Kelley CP*, Wang ET#, Todd PK#.   

Nat Rev Mol Cell Biol. 2021 Jun 17.   

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.

Mailick MR, Hong J, Movaghar A, DaWalt L, Berry-Kravis EM, Brilliant MH, Boero J, Todd PK, Hall D.  

Mov Disord. 2021. 

The RNA helicase DHX36/G4R1 modulates C9orf72 GGGGCC repeat-associated translation.  

Tseng Y-J, Sandwith SN, Green KM, Chambers AE, Krans A, Raimer HM, Sharlow ME, Reisinger MA, Richardson AE, Routh ED, Smaldino MA, Wang Y-H, Vaughn JP, Todd PK#, Smaldino PJ#.  

Journal of Biological Chemistry.  2021 Aug; 297(2): 100914. 

Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction. 

M. Rebecca Glineburg, Yuan Zhang, Amy Krans, Elizabeth M. Tank, Sami J. Barmada & Peter K. Todd.  

Acta Neuropathol Commun 9, 73 (2021). 

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms.

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.  

Brain Commun. 2021 Jan 27;3(1):fcab007.

2020

A repeating theme in ALS genetics.

Todd PK.  

Neurology. 2020 Sep 28:10.1212/WNL.0000000000010959. 

Translational control in aging and neurodegeneration.

Skariah G, Todd PK.

Wiley Interdiscip Rev RNA. 2020 Sep 20:e1628.  

The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD.

He F, Flores BN, Krans A, Frazer M, Natla S, Niraula S, Adefioye O, Barmada SJ, Todd PK.

Acta Neuropathol Commun. 2020 Aug 4;8(1):122. 

A native function for RAN translation and CGG repeats in regulating Fragile X protein synthesis 

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.  

Nature Neuroscience,  2020 Mar;23(3):386-397.   

Lay article on impact of this work 

Biotech press summary of article

*Selected as "paper of the month" by Oligotherapeutics

Genetic testing utilization for patients with neurological disease and the limitations of claims data

Samuel J Mackenzie, Chun Chieh Lin, Peter K Todd, James F Burke, and Brian C Callaghan

Neurology: Genetics April 2020; 6 (2) .

2019

High-throughput screening yields several small-molecule inhibitors of repeat-associated non-AUG translation

Katelyn M Green, Udit Sheth, Brittany N Flores, Shannon E Wright, Alexandra Sutter, Michael G Kearse, Sami J. Barmada, Magdalena I. Ivanova, and Peter K Todd.

Journal if Biological Chemistry. 2019 Oct 23.   PMID: 31649034 doi: 10.1074/jbc.RA119.009951.

Highlighted in Trends in Pharmaceutical Sciences

Neuropathology of RAN translation proteins in Fragile X-associated Tremor/Ataxia Syndrome 

Amy Krans, Geena Skariah, Yuan Zhang, Bryana Bayly, Peter K. Todd 

Acta Neuropathol Commun.  2019 Oct 30;7(1):152. 

Fragile X-associated Tremor Ataxia Syndrome with concurrent Progressive Supranuclear Palsy-like Neuropathology

Amanda N. Sacino; Stefan Prokop; Meggen A. Walsh; Jennifer Adamson; S H Subramony; Amy Krans; Peter K. Todd; Benoit I. Giasson; Anthony T. Yachnis

Acta Neuropathol Commun. 2019 Oct 30;7(1):158.

DDX3X and specific initiation factors modulate FMR1 repeat-associated non-AUG-initiated translation.

Linsalata AE, He F, Malik AM, Glineburg MR, Green KM, Natla S, Flores BN, Krans A, Archbold HC, Fedak SJ, Barmada SJ, Todd PK.

EMBO Rep. 2019 Jul 25:e47498. LINK

New pathologic mechanisms in nucleotide repeat expansion disorders.

Rodriguez CM, Todd PK.

Neurobiol Dis. 2019 Oct;130:104515. Epub 2019 Jun 21. Review. LINK

Ribosome queuing enables non-AUG translation to be resistant to multiple protein synthesis inhibitors.

Kearse MG, Goldman DH, Choi J, Nwaezeapu C, Liang D, Green KM, Goldstrohm AC, Todd PK, Green R, Wilusz JE.

Genes Dev. 2019 Jul 1;33(13-14):871-885. Epub 2019 Jun 6.  LINK

Translation of upstream open reading frames in a model of neuronal differentiation

Rodriguez, C.M.,  Chun, S.Y., Mills, R.E., Todd, P.K.

BMC Genomics. 2019 May 20;20(1):391. doi: 10.1186/s12864-019-5775-1. LINK

2018

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells. 

Jill Haenfler, Geena Skariah, Caitlin M Rodriguez, Andre Monteiro Da Rocha, Jack Parent, Gary D Smith, Peter K Todd

Front Mol Neurosci. 2018 Aug 15;11:282. Link

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.

Glineburg MR, Todd PK, Charlet-Berguerand N, Sellier C.

Brain Research,  2018 Feb 14. pii: S0006-8993(18)30064-7. Link

2017

RAN translation at C9orf72- associated repeat expansions is selectively enhanced by the integrated stress response.

Green KM, Glineburg MR*, Kearse MG*, Flores BN, Linsalata AE, Fedak SJ, Goldstrohm AC, Barmada SJ, Todd PK.

Nature Communications, 2017.  Link                                           

Supplemental Info

*discussed on ALZforum: Link

Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to Fragile X Tremor Ataxia Syndrome. 

Sellier C, Buijsen RA, 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.

Neuron. 2017 Jan 18;93(2):331-347. Link

*previewed in Neuron: Link

2016

SPECtre: a spectral coherence--based classifier of actively translated transcripts from ribosome profiling sequence data.

Chun SY, Rodriguez CM, Todd PK, Mills RE.

BMC Bioinformatics. 2016 Nov 25;17(1):482.  Link

RAN translation from antisense CCG repeats in Fragile X Tremor/Ataxia Syndrome

Krans A, Kearse MG, Todd PK.

Annals of Neurology Oct 2016 

Distinct C9orf72 associated dipeptide repeat structures correlate with neuronal toxicity 

Flores BN, Dulchavsky ME, Krans A, Sawaya MR, Paulson HL, Todd PK, Barmada SJ, Ivanova MI

PLoS One, 2016 Oct 24;11(10):e0165084.  Link

CGG Repeat associated non-AUG translation utilizes a cap-dependent, scanning mechanism of initiation to produce toxic proteins.

Kearse MG, Green KM, Krans A, Rodriguez CM, Linsalata AE, Goldstrohm AC, Todd PK.

Molecular Cell 2016. 62(2), Pages 155–156. Link

*Previewed in Molecular Cell: Link

*Highlighted in Nature Reviews Molecular & Cellular Biology: Link

Small Molecule Recognition and Tools to Study Modulation of r(CGG)exp in Fragile X-Associated Tremor Ataxia Syndrome.

Yang WY, He F, Strack RL, Oh SY, Frazer M, Jaffrey SR, Todd PK, Disney MD.

ACS Chemical Biology 2016 Sep 16;11(9):2456-65. Link

A Screen for Novel Hexanucleotide Repeat Expansions at ALS and FTD Associated Loci.

He F, Jones JB, Figueroa-Romero C, Zhang D, Feldman EL, Goutman SA, Meisler MH, Callaghan BC, and Todd PK.

Neurology: Genetics. 2016 May 11;2(3):e71. Link

RAN translation: What makes it Run?

Green KM, Linsalata AE, Todd PK.

Brain Research 2016 2016 Sep 15;1647:30-42. Link

2015

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. 

Oh S-Y, He F, Krans A, Frazer M, Taylor JP, Paulson HL and Todd PK.  

Human Molecular Genetics 2015. 24 (15), 4317-4326.  Link

2014

Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in amyotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model. 

deLorimier E, Coonrod LA, Copperman J, Taber A, Reister EE, Sharma K, Todd PK, Guenza MG, Berglund JA

Nucleic Acids Research  2014 Nov 10; 42(20): 12768–12778. Link

Fragile X mental retardation protein expression in Alzheimer's Disease. 

Renoux AJ, Carducci NM, Ahmady AA and Todd PK. 

Frontiers in Genetics. 5:630.  Link

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers R, Brown RH, Rothstein JD, Boylan KB, Petrucelli L, Disney MD. 

Neuron. 2014 Sep 3;83(5):1043-50. Link

Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease.

Kearse MG, Todd PK.

Neurotherapeutics. 2014 Jul 9. Link

Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice. 

Renoux AJ, Sala-Hamrick KJ, Carducci NM, Frazer M, Halsey KE, Sutton MA, Dolan DF, Murphy GG, Todd PK. 

Behavioral Brain Research. 2014 Jul 1;267:42-5. Link

TDP-43 Suppresses CGG Repeat-induced Neurotoxicity through Interactions with HnRNP A2/B1.

He F, Krans A, Freibaum BD, Taylor JP, Todd PK. 

Human Molecular Genetics 2014 May 8. pii: ddu216. Link

JC Virus Granule Cell Neuronopathy in a patient treated with Rituximab. 

Dang L, Dang X, Koralnik IJ, and Todd PK. 

JAMA Neurology, 2014 Apr;71(4):487-9.  Link

2013

Making sense of the antisense transcripts in C9FTD/ALS.

Todd PK

Acta Neuropathologica. 2013 Dec;126(6):785-7. Link

C9orf72-associated FTD/ALS: when less is more.

Todd PK, Paulson HL.

Neuron. 2013 Oct 16;80(2):257-8. Link

Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.

Todd PK, Ackall FY, Hur J, Sharma K, Paulson HL, Dowling JJ.

Disease Models & Mechanisms. 2014 Jan-Feb;7(1):143-55. Link

CGG Repeat Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome. 

Todd PK, Oh S-Y, Krans A, He F, Sellier C, Frazer MI, Renoux AJ, Chen K-C, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, and Paulson HL. 

Neuron. May 8;78(3):440-55. doi: 10.1016/j.neuron.2013.03.026. Link

*Previewed in Neuron 2013 Link

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processingin Fragile X-Associated Tremor/Ataxia Syndrome. 

Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault H, Page A, Tassone F, Willemsen R, Disney M, Hagerman P, Todd P, Charlet- Berguerand N 

Cell Reports. 2013 Mar 5. Link

C9ORF72 expansion in a family with bipolar disorder and frontotemporal dementia. 

Meisler MH, Grant AE, Jones JM, Lenk GM, He F, Todd PK, Kamali M, Albin RL, Lieberman AP, Langenecker SA, McInnis MG. 

Bipolar Disorders 2013 May;15(3):326-32.  Link

2012

Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. 

Iliff AJ, Renoux AJ, Krans A, Usdin K, Sutton MA, Todd PK. 

Human Molecular Genetics 2012; Link

Kill the messenger where it lives. 

Todd PK, Paulson HL. 

Nature. 2012 Aug 2; 488 (7409):36-8.  Link

Neurodegeneration the RNA way. 

Renoux AJ, Todd PK. 

Progress in Neurobiology. 97 (2): 173–189.  2012  Link

2011:

Epigenetics in Nucleotide repeat disorders. 

He F, Todd PK. 

Seminars in Neurology. 2011 Nov;31 (5):470-83. 2011  Link

2010

Histone Deacetylases Suppress CGG Repeat-Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome. 

Todd PK, Oh S-Y, Krans A, Pandey UB, DiProspero NA, Min K-T, Taylor JP, Paulson HL. 

PLoS Genetics, 6(12): e1001240, 2010. Link

*Highlighted in Nature Chemical Biology, 7(1), 2011

RNA-mediated neurodegeneration in repeat expansion disorders.

Todd PK, Paulson HL. 

Annals of Neurology 2010; 67: 291-300. Link

Before 2010

Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection.  

Nedelsky NB, Todd PK, Taylor JP.  

Biochemica Biophysica Acta 2008; 1782: 691-699 Link

 The fragile X mental retardation protein is required for type-1 metabotropic glutamate receptor-dependent translation of PSD-95.

Todd PK, Mack KJ, Malter JS.  

Proceedings of the National Academy of Science. 2003; 100: 14374-8  Link

*Highlighted in Nature reviews Neuroscience  5,4 2004

Whisker stimulation-dependent translation of FMRP in the barrel cortex requires activation of type 1 metabotropic glutamate receptors.

Todd PK, Malter JS, Mack KJ.  

Brain Research Molecular Brain Research 2003; 110: 267-278 Link

Fragile X mental retardation protein in plasticity and disease.

Todd PK, Malter JS.  

Journal of Neuroscience Research 2002; 70: 623-30          Link

Phosphorylation, CREB, and Mental Retardation.

Todd PK, Mack KJ.  

Pediatric Research 2001; 50: 672          Link

Sensory stimulation increases cortical expression of the fragile X mental retardation protein in vivo.  

Todd PK, Mack KJ.  

Brain Research Molecular Brain Research 2000; 80: 17-25  Link

Behavioral sensitization and Extra-cellular dopamine responses to amphetamine after various treatments.  

Kuczenski R, Segal DS, Todd PK. 

Psychopharmacology 1997;134(3):221-229.

Other Published Materials: 

Hereditary Cerebellar Ataxia 

Todd PK, Shakkottai V, Gilman S. 

In Textbook of Clinical Neurology, 2011

The Differential Diagnosis and treatment of Cerebellar Ataxia in Adults. 

Todd PK, Taylor JP.  

In UpToDate 2010.