CHDI
Listed here are over 1,075 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
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
Sampaio C, Wilkinson HA
Facilitating Huntington's disease research: plasma neurofilament levels as a promising enrichment biomarker for HD-ISS stage 1
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
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
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
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
Khakh BS, Goldman SA
Astrocytic contributions to Huntington's disease pathophysiology
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)
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
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
Stoebner ZA, Hett K, Lyu I, Johnson H, Paulsen JS, Long JD, Oguz I
Comprehensive shape analysis of the cortex in Huntington's disease
Sap KA, Geijtenbeek KW, Schipper-Krom S, Guler AT, Reits EA
Ubiquitin-modifying enzymes in Huntington's disease
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
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
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
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
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
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
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
Schultz JL, Langbehn DR, Al-Kaylani HM, van der Plas E, Koscik TR, Epping EA, Espe-Pfeifer PB, Martin EP, Moser DJ, Magnotta VA, Nopoulos PC
Longitudinal clinical and biological characteristics in juvenile-onset Huntington's disease
Murmann AE, Patel M, Jeong SY, Bartom ET, Morton AJ, Peter ME
The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference
Alcalá-Vida R, Lotz C, Brulé B, Seguin J, Decraene C, Awada A, Bombardier A, Cosquer B, Pereira de Vasconcelos A, Brouillet E, Cassel JC, Boutillier AL, Merienne K
Altered activity-regulated H3K9 acetylation at TGF-beta signaling genes during egocentric memory in Huntington's disease
Rodriguez Santana I, Frank S, Doherty M, Willock R, Hamilton J, Hubberstey H, Stanley C, Vetter L, Winkelmann M, Dolmetsch RE, Li N, Ratsch S, Ali TM
Humanistic burden of Huntington disease: Evidence from the Huntington disease burden of illness study
Schultz JL, Epping EA, van der Plas E, Magnotta VA, Nopoulos PC
Striatal development in early-onset Huntington's disease
Conforti P, Bocchi VD, Campus I, Scaramuzza L, Galimberti M, Lischetti T, Talpo F, Pedrazzoli M, Murgia A, Ferrari I, Cordiglieri C, Fasciani A, Arenas E, Felsenfeld D, Biella G, Besusso D, Cattaneo E
In vitro-derived medium spiny neurons recapitulate human striatal development and complexity at single-cell resolution
Taghian T, Gallagher J, Batcho E, Pullan C, Kuchel T, Denney T, Perumal R, Moore S, Muirhead R, Herde P, Johns D, Christou C, Taylor A, Passler T, Pulaparthi S, Hall E, Chandra S, O’Neill CA, Gray-Edwards H
Brain alterations in aged OVT73 sheep model of Huntington's disease: An MRI based approach