Scientific Publications

Listed here are over 1000 publications that describe some of the research funded (in whole or in part) by CHDI Foundation. You can also view just the subset of publications that have CHDI staff as authors.

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Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM
Modification of Huntington's disease by short tandem repeats
Brain Commun
January 23, 2024
6 (2) :fcae016
PMID: 38449714
Belgrad J, Tang Q, Hildebrand S, Summers A, Sapp E, Echeverria D, O’Reilly D, Luu E, Bramato B, Allen S, Cooper D, Alterman J, Yamada K, Aronin N, DiFiglia M, Khvorova A
A programmable dual-targeting di-valent siRNA scaffold supports potent multi-gene modulation in the central nervous system
BioRxiv [Preprint]
December 19, 2023
PMID: 38187561
Callahan JW, Morales JC, Atherton JF, Wang D, Kostic S, Bevan MD
Movement-related increases in subthalamic activity optimize locomotion
BioRxiv [Preprint]
December 8, 2023
PMID: 38105984
Regio S, Vachey G, Goñi E, Duarte F, Rybarikova M, Sipion M, Rey M, Huarte M, Déglon N
Revisiting the outcome of adult wild-type Htt inactivation in the context of HTT-lowering strategies for Huntington's disease
Brain Commun
December 7, 2023
5 (6) :fcad344
PMID: 38116140
Langbehn DR, Sathe SS, Loy C, Sampaio C, Mccusker EA
A phenotypic atlas for Huntington disease based on data from the Enroll-HD cohort study
Neurol Genet
December 1, 2023
9 (6) :e200111
PMID: 38035176
Sun Y, Dai H, Dai X, Yin J, Cui Y, Liu X, Gonzalez G, Yuan J, Tang F, Wang N, Perlegos AE, Bonini NM, Yang XW, Gu W, Wang Y
m1A in CAG repeat RNA binds to TDP-43 and induces neurodegeneration
November 16, 2023
623 (7987) :580-587
PMID: 37938769
Wilton DK, Mastro K, Heller MD, Gergits FW, Willing CR, Fahey JB, Frouin A, Daggett A, Gu X, Kim YA, Faull RLM, Jayadev S, Yednock T, Yang XW, Stevens B
Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease
Nat Med
November 2, 2023
29 (11) :2866-2884
PMID: 37814059
Shing K, Sapp E, Boudi A, Liu S, Seeley C, Marchionini D, DiFiglia M, Kegel-Gleason KB
Early whole-body mutant huntingtin lowering averts changes in proteins and lipids important for synapse function and white matter maintenance in the LacQ140 mouse model
Neurobiol Dis
October 15, 2023
187 :106313
PMID: 37777020
McBride SD, Ober J, Dylak J, Schneider W, Morton AJ
Oculomotor abnormalities in a sheep (ovis aries) model of Huntington's disease: Towards a biomarker for assessing therapeutic efficacy
J Huntingtons Dis
October 3, 2023
12 (3) :189-200
PMID: 37718849
Watson KH, Ciriegio AE, Pfalzer AC, Snow A, Hale L, Diehl S, McDonell KE, Claassen DO, Compas BE
Intrapersonal and interpersonal disengagement coping: associations with emotions of youth at-risk for Huntington's disease
J Huntingtons Dis
October 3, 2023
12 (3) :305-312
PMID: 37334612
Sapp E, Boudi A, Reid SJ, Trombetta BA, Kivisäkk P, Taghian T, Arnold SE, Howland D, Gray-Edwards H, Kegel-Gleason KB, DiFiglia M
Levels of synaptic proteins in brain and neurofilament light chain in cerebrospinal fluid and plasma of OVT73 Huntington's disease sheep support a prodromal disease state
J Huntingtons Dis
October 3, 2023
12 (3) :201-213
PMID: 37661892
Cariulo C, Martufi P, Verani M, Toledo-Sherman L, Lee R, Dominguez C, Petricca L, Caricasole A
IKBKB reduces huntingtin aggregation by phosphorylating serine 13 via a non-canonical IKK pathway
Life Sci Alliance
October 2, 2023
6 (10) :e202302006
PMID: 37553253
Buchanan DA, Brown AE, Osigwe EC, Pfalzer AC, Mann LG, Yan Y, Kang H, Claassen DO
Racial differences in the presentation and progression of Huntington's disease
Mov Disord
October 1, 2023
38 (10) :1945-1949
PMID: 37559498
Wilkes FA, Jakabek D, Walterfang M, Velakoulis D, Poudel GR, Stout JC, Chua P, Egan GF, Looi JCL, Georgiou-Karistianis N
The shape of things to come. Mapping spatiotemporal progression of striatal morphology in Huntington disease: The IMAGE-HD study
Psychiatry Res Neuroimaging
October 1, 2023
335 :111717
PMID: 37751638
Bertoglio D, Weiss AR, Liguore W, Martin LD, Hobbs T, Templon J, Srinivasan S, Dominguez C, Munoz-Sanjuan I, Khetarpal V, Verhaeghe J, Staelens S, Link J, Liu L, Bard JA, McBride JL
In vivo cerebral imaging of mutant huntingtin aggregates using 11C-CHDI-180R PET in a nonhuman primate model of Huntington disease
J Nucl Med
October 1, 2023
64 (10) :1581-1587
PMID: 37591545
Liu L, Malagu K, Haughan AF, Khetarpal V, Stott AJ, Esmieu W, Vater HD, Webster SJ, Van de Poël AJ, Clissold C, Cosgrove B, Sutton B, Spencer JA, Breccia P, Gancia E, Bonomo S, Ladduwahetty T, Lazari O, Patel H, Atton HC, Clifton S, Mota DM, Magnani D, O’Neill A, Stebbeds M, Macabuag N, Todd D, Herva ME, Mitchell P, Visser M, Compte Sancerni S, Grand Moursel L, da Silva M, Kritikou E,…Dominguez C
Identification and optimization of RNA-splicing modulators as huntingtin protein-lowering agents for the treatment of Huntington's disease
J Med Chem
September 28, 2023
66 (18) :13205-13246
PMID: 37712656
Bragg RM, Coffey SR, Cantle JP, Hu S, Singh S, Legg SR, McHugh CA, Toor A, Zeitlin SO, Kwak S, Howland D, Vogt TF, Monga SP, Carroll JB
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation
Life Sci Alliance
September 8, 2023
6 (11) :e202302098
PMID: 37684045
Alteen MG, Deme JC, Alvarez CP, Loppnau P, Hutchinson A, Seitova A, Chandrasekaran R, Silva Ramos E, Secker C, Alqazzaz M, Wanker EE, Lea SM, Arrowsmith CH, Harding RJ
Delineation of functional subdomains of huntingtin protein and their interaction with HAP40
September 7, 2023
31 (9) :1121-1131
PMID: 37390814
Laundos TL, Li S, Cheang E, De Santis R, Piccolo FM, Brivanlou AH
Huntingtin CAG-expansion mutation results in a dominant negative effect
Front Cell Dev Biol
September 1, 2023
11 :1252521
PMID: 37727506
van Eimeren T, Giehl K, Reetz K, Sampaio C, Mestre TA
Neuroimaging biomarkers in Huntington's disease: Preparing for a new era of therapeutic development
Parkinsonism Relat Disord
September 1, 2023
114 :105488
PMID: 37407343
Wibawa P, Walterfang M, Malpas CB, Glikmann-Johnston Y, Poudel G, Razi A, Hannan AJ, Velakoulis D, Georgiou-Karistianis N
Selective perforant-pathway atrophy in Huntington disease: MRI analysis of hippocampal subfields
Eur J Neurol
September 1, 2023
30 (9) :2650-2660
PMID: 37306313
Oh YM, Lee SW, Yoo AS
Modeling Huntington disease through microRNA-mediated neuronal reprogramming identifies age-associated autophagy dysfunction driving the onset of neurodegeneration
September 1, 2023
19 (9) :2613-2615
PMID: 36727408
Jiang A, Handley RR, Lehnert K, Snell RG
From pathogenesis to therapeutics: A review of 150 years of Huntington's disease research
Int J Mol Sci
August 21, 2023
24 (16) :13021
PMID: 37629202
Wijeratne PA, Eshaghi A, Scotton WJ, Kohli M, Aksman L, Oxtoby NP, Pustina D, Warner JH, Paulsen JS, Scahill RI, Sampaio C, Tabrizi SJ, Alexander DC
The temporal event-based model: Learning event timelines in progressive diseases
Imaging Neurosci (Camb)
August 21, 2023
1 :1-19
PMID: 37719837
Liu CF, Younes L, Tong XJ, Hinkle JT, Wang M, Phatak S, Xu X, Bu X, Looi V, Bang J, Tabrizi SJ, Scahill RI, Paulsen JS, Georgiou-Karistianis N, Faria AV, Miller MI, Ratnanather JT, Ross CA
Longitudinal imaging highlights preferential basal ganglia circuit atrophy in Huntington's disease
Brain Commun
August 18, 2023
5 (5) :fcad214
PMID: 37744022
Speziale R, Montesano C, Di Pietro G, Cicero DO, Summa V, Monteagudo E, Orsatti L
The urine metabolome of R6/2 and zQ175DN Huntington's disease mouse models
August 18, 2023
13 (8) :961
PMID: 37623904
Hu B, Younes L, Bu X, Liu CF, Tilak Ratnanather J, Paulsen J, Georgiou-Karistianis N, Miller MI, Ross C, Faria AV
Mixed longitudinal and cross-sectional analyses of deep gray matter and white matter using diffusion weighted images in premanifest and manifest Huntington's disease
Neuroimage Clin
August 9, 2023
39 :103493
PMID: 37582307
Miguez A, Gomis C, Vila C, Monguió-Tortajada M, Fernández-García S, Bombau G, Galofré M, García-Bravo M, Sanders P, Fernández-Medina H, Poquet B, Salado-Manzano C, Roura S, Alberch J, Segovia JC, Allen ND, Borràs FE, Canals JM
Soluble mutant huntingtin drives early human pathogenesis in Huntington's disease
Cell Mol Life Sci
August 3, 2023
80 (8) :238
PMID: 37535170
Wilkes FA, Jakabek D, Walterfang M, Velakoulis D, Poudel GR, Stout JC, Chua P, Egan GF, Looi JCL, Georgiou-Karistianis N
Hippocampal morphology in Huntington's disease, implications for plasticity and pathogenesis: The IMAGE-HD study
Psychiatry Res Neuroimaging
August 2, 2023
335 :111694
PMID: 37598529
Sampaio C, Wilkinson HA
Facilitating Huntington's disease research: plasma neurofilament levels as a promising enrichment biomarker for HD-ISS stage 1
August 1, 2023
94 :104710
PMID: 37442063
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF
PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease
BioRxiv [Preprint]
July 27, 2023
PMID: 37547003
Ouwerkerk J, Feleus S, van der Zwaan KF, Li Y, Roos M, van Roon-Mom WMC, de Bot ST, Wolstencroft KJ, Mina E
Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
Orphanet J Rare Dis
July 27, 2023
18 (1) :218
PMID: 37501188
Bagherpoor Helabad M, Matlahov I, Daldrop JO, Jain G, van der Wel PCA, Miettinen MS
Integrative determination of the atomic structure of mutant huntingtin exon 1 fibrils from Huntington's disease
BioRxiv [Preprint]
July 21, 2023
PMID: 37502911
Vieira R, Mariani JN, Huynh NPT, Stephensen HJT, Solly R, Tate A, Schanz S, Cotrupi N, Mousaei M, Sporring J, Benraiss A, Goldman SA
Young glial progenitor cells competitively replace aged and diseased human glia in the adult chimeric mouse brain
Nat Biotechnol
July 17, 2023
PMID: 37460676
Adhikari MH, Vasilkovska T, Cachope R, Tang H, Liu L, Keliris GA, Munoz-Sanjuan I, Pustina D, Van der Linden A, Verhoye M
Longitudinal investigation of changes in resting-state co-activation patterns and their predictive ability in the zQ175 DN mouse model of Huntington's disease
Sci Rep
June 23, 2023
13 (1) :10194
PMID: 37353500
Pressl C, Mätlik K, Kus L, Darnell P, Luo JD, Paul MR, Weiss AR, Liguore W, Carroll T, Davis DA, McBride J, Heintz N
Selective vulnerability of layer 5a corticostriatal neurons in Huntington's disease
BioRxiv [Preprint]
June 8, 2023
PMID: 37162977
Mätlik K, Baffuto M, Kus L, Deshmukh AL, Davis DA, Paul MR, Carroll TS, Caron MC, Masson JY, Pearson CE, Heintz N
Cell type specific CAG repeat expansions and toxicity of mutant huntingtin in human striatum and cerebellum
BioRxiv [Preprint]
June 8, 2023
PMID: 37333326
O’Reilly D, Belgrad J, Ferguson C, Summers A, Sapp E, McHugh C, Mathews E, Boudi A, Buchwald J, Ly S, Moreno D, Furgal R, Luu E, Kennedy Z, Hariharan V, Monopoli K, Yang XW, Carroll J, DiFiglia M, Aronin N, Khvorova A
Di-valent siRNA-mediated silencing of MSH3 blocks somatic repeat expansion in mouse models of Huntington's disease
Mol Ther
June 7, 2023
31 (6) :1661-1674
PMID: 37177784
Hamilton JL, Mills JA, Stebbins GT, Long JD, Fuller RLM, Sathe S, Roché M, Sampaio C
Defining clinical meaningfulness in Huntington's disease
Mov Disord
June 2, 2023
38 (6) :1036-1043
PMID: 37147862
Khetarpal V, Herbst T, Akhtar S, LaFayette A, Miller D, Farnham J, Steege T, Miao Z, Marks B, Ledvina A, Dominguez C
Validation of LC-MS/MS methods for quantitative analysis of kynurenine pathway metabolites in human plasma and cerebrospinal fluid
June 2, 2023
15 (11) :637-651
PMID: 37170582