CHDI
Listed here are over 950 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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Title
Journal
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
335 :111717
PMID: 37751638
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
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
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
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
Laundos TL, Li S, Cheang E, De Santis R, Piccolo FM, Brivanlou AH
Huntingtin CAG-expansion mutation results in a dominant negative effect
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
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
Oh YM, Lee SW, Yoo AS
Modeling Huntington disease through microRNA-mediated neuronal reprogramming identifies age-associated autophagy dysfunction driving the onset of neurodegeneration
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
Brady ST, Mesnard-Hoaglin NA, Priego M, Dziechciowska J, Morris S, Kang M, Tsai MY, Purks JL, Klein A, Gaona A, Melloni A, Connors T, Hyman B, Song Y, Morfini GA
Toxic effects of mutant huntingtin in axons are mediated by its proline-rich domain
Jiang A, Handley RR, Lehnert K, Snell RG
From pathogenesis to therapeutics: A review of 150 years of Huntington's disease research
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
1 :1-19
PMID: 37719837
PMCID: 1050348
DOI: 10.1162/imag_a_00010
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
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
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
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
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
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
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
335 :111694
PMID: 37598529
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
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
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
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
Sampaio C, Wilkinson HA
Facilitating Huntington's disease research: plasma neurofilament levels as a promising enrichment biomarker for HD-ISS stage 1
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
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
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
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
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
Hamilton JL, Mills JA, Stebbins GT, Long JD, Fuller RLM, Sathe S, Roché M, Sampaio C
Defining clinical meaningfulness in Huntington's disease
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
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
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
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
10 (7) :1120-1125
PMID: 37476323
PMCID: 1035461
DOI: 10.1002/mdc3.13763
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
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
Duan W, Urani E, Mattson MP
The potential of gene editing for Huntington's disease
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
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