Scientific Publications

Listed here are over 1,035 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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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
Autophagy
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
Metabolites
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
EBioMedicine
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
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
Bioanalysis
June 2, 2023
15 (11) :637-651
PMID: 37170582
Vasilkovska T, Adhikari M, Van Audekerke J, Salajeghe S, Pustina D, Cachope R, Tang H, Liu L, Munoz-Sanjuan I, Van der Linden A, Verhoye M
Resting-state fMRI reveals longitudinal alterations in brain network connectivity in the zQ175DN mouse model of Huntington's disease
Neurobiol Dis
June 1, 2023
181 :106095
PMID: 36963694
Lange J, Gillham O, Flower M, Ging H, Eaton S, Kapadia S, Neueder A, Duchen MR, Ferretti P, Tabrizi SJ
PolyQ length-dependent metabolic alterations and DNA damage drive human astrocyte dysfunction in Huntington's disease
Prog Neurobiol
June 1, 2023
225 :102448
PMID: 37023937
Ogilvie AC, Schultz JL
Memantine use and cognitive decline in Huntington's disease: An Enroll-HD study
Mov Disord Clin Pract
May 16, 2023
10 (7) :1120-1125
PMID: 37476323
Spick M, Hancox TPM, Chowdhury NR, Middleton B, Skene DJ, Morton AJ
Metabolomic analysis of plasma in Huntington's disease transgenic sheep (Ovis aries) reveals progressive circadian rhythm dysregulation
J Huntingtons Dis
May 2, 2023
12 (1) :31-42
PMID: 36617787
Long JD, Gantman EC, Mills JA, Vaidya JG, Mansbach A, Tabrizi SJ, Sampaio C
Applying the Huntington's Disease Integrated Staging System (HD-ISS) to observational studies
J Huntingtons Dis
May 2, 2023
12 (1) :57-69
PMID: 37092230
Duan W, Urani E, Mattson MP
The potential of gene editing for Huntington's disease
Trends Neurosci
May 1, 2023
46 (5) :365-376
PMID: 36907678
Bravo-Arredondo JM, Venkataraman R, Varkey J, Isas JM, Situ AJ, Xu H, Chen J, Ulmer TS, Langen R
Molecular basis of Q-length selectivity for the MW1 antibody-huntingtin interaction
J Biol Chem
April 11, 2023
299 (4) :104616
PMID: 36931390
Liu H, Chen L, Zhang C, Liu C, Li Y, Cheng L, Wei Z, Zhang Z, Lu H, van Zijl PCM, Iliff JJ, Xu J, Duan W
Interrogation of dynamic glucose-enhanced MRI and fluorescence-based imaging reveals a perturbed glymphatic network in Huntington's disease
BioRxiv
April 3, 2023
PMID: 37066166
Khakh BS, Goldman SA
Astrocytic contributions to Huntington's disease pathophysiology
Ann N Y Acad Sci
April 3, 2023
1522 (1) :42-59
PMID: 36864567
Rodríguez-Santana I, Mestre T, Squitieri F, Willock R, Arnesen A, Clarke A, D’Alessio B, Fisher A, Fuller R, Hamilton JL, Hubberstey H, Stanley C, Vetter L, Winkelmann M, Doherty M, Wu Y, Finnegan A, Frank S
Economic burden of Huntington's disease in Europe and the USA: Results from the Huntington's disease Burden of Illness Study (HDBOI)
Eur J Neurol
April 3, 2023
30 (4) :1109-1117
PMID: 36421029
Pancani T, Day M, Tkatch T, Wokosin DL, González-Rodríguez P, Kondapalli J, Xie Z, Chen Y, Beaumont V, Surmeier DJ
Cholinergic deficits selectively boost cortical intratelencephalic control of striatum in male Huntington's disease model mice
Nat Commun
March 14, 2023
14 (1) :1398
PMID: 36914640
Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V, Spanish HD Collaborative group, Monckton DG, Ramos-Arroyo MA
Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease
Hum Mol Genet
March 6, 2023
32 (6) :897-906
PMID: 36130218
PMCID: 9990985
Stoebner ZA, Hett K, Lyu I, Johnson H, Paulsen JS, Long JD, Oguz I
Comprehensive shape analysis of the cortex in Huntington's disease
Hum Brain Mapp
March 1, 2023
44 (4) :1417-1431
PMID: 36409662
PMCID: 9921229
Sap KA, Geijtenbeek KW, Schipper-Krom S, Guler AT, Reits EA
Ubiquitin-modifying enzymes in Huntington's disease
Front Mol Biosci
February 8, 2023
10 :1107323
PMID: 36926679
Gangwani MR, Soto JS, Jami-Alahmadi Y, Tiwari S, Kawaguchi R, Wohlschlegel JA, Khakh BS
Neuronal and astrocytic contributions to Huntington's disease dissected with zinc finger protein transcriptional repressors
Cell Rep
January 31, 2023
42 (1) :111953
PMID: 36640336
PMCID: 9898160
Ko J, Furby H, Ma X, Long JD, Lu XY, Slowiejko D, Gandhy R
Clustering and prediction of disease progression trajectories in Huntington's disease: An analysis of Enroll-HD data using a machine learning approach
Front Neurol
January 30, 2023
13 :1034269
PMID: 36793800
PMCID: 9923354
Smith EJ, Sathasivam K, Landles C, Osborne GF, Mason MA, Gomez-Paredes C, Taxy BA, Milton RE, Ast A, Schindler F, Zhang C, Duan W, Wanker EE, Bates GP
Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches
Brain Commun
January 20, 2023
5 (1) :fcad010
PMID: 36756307
PMCID: 9901570
Matsushima A, Pineda SS, Crittenden JR, Lee H, Galani K, Mantero J, Tombaugh G, Kellis M, Heiman M, Graybiel AM
Transcriptional vulnerabilities of striatal neurons in human and rodent models of Huntington's disease
Nat Commun
January 17, 2023
14 (1) :282
PMID: 36650127
Fang L, Monteys AM, Dürr A, Keiser M, Cheng C, Harapanahalli A, Gonzalez-Alegre P, Davidson BL, Wang K
Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing
HGG Adv
January 12, 2023
4 (1) :100146
PMID: 36262216
PMCID: 9574884
Liu L, Johnson PD, Prime ME, Khetarpal V, Brown CJ, Anzillotti L, Bertoglio D, Chen X, Coe S, Davis R, Dickie AP, Esposito S, Gadouleau E, Giles PR, Greenaway C, Haber J, Halldin C, Haller S, Hayes S, Herbst T, Herrmann F, Heßmann M, Hsai MM, Khani Y, Kotey A, Lembo A, Mangette JE, Marriner GA, Marston RW, Mills MR, Monteagudo E, …Dominguez C
Design and evaluation of [18F]CHDI-650 as a positron emission tomography ligand to image mutant huntingtin aggregates
J Med Chem
January 12, 2023
66 (1) :641-656
PMID: 36548390
Lee Y, Kim H, Barker D, Vijayvargia R, Atwal RS, Specht H, Keshishian H, Carr SA, Lee R, Kwak S, Hyun KG, Loupe J, MacDonald ME, Song JJ, Seong IS
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550
Hum Mol Genet
January 1, 2023
32 (1) :30-45
PMID: 35908190