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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Title
Journal
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
Li XY, Bao YF, Xie JJ, Qian SX, Gao B, Xu M, Dong Y, Burgunder JM, Wu ZY
The Chinese version of UHDRS in Huntington's disease: Reliability and validity assessment
Lim CKW, McCallister TX, Saporito-Magriña C, McPheron GD, Krishnan R, Zeballos C MA, Powell JE, Clark LV, Perez-Pinera P, Gaj T
CRISPR base editing of cis-regulatory elements enables the perturbation of neurodegeneration-linked genes
Castro E, Polosecki P, Pustina D, Wood A, Sampaio C, Cecchi GA
Predictive modeling of Huntington's disease unfolds thalamic and caudate atrophy dissociation
Tan B, Shishegar R, Oldham S, Fornito A, Poudel G, Georgiou-Karistianis N
Investigating longitudinal changes to frontal cortico-striatal tracts in Huntington's disease: the IMAGE-HD study
Delva A, Koole M, Serdons K, Bormans G, Liu L, Bard J, Khetarpal V, Dominguez C, Munoz-Sanjuan I, Wood A, Skinbjerg M, Wang Y, Vandenberghe W, Van Laere K
Biodistribution and dosimetry in human healthy volunteers of the PET radioligands [11C]CHDI-00485180-R and [11C]CHDI-00485626, designed for quantification of cerebral aggregated mutant huntingtin
Eur J Nucl Med Mol Imaging
December 1, 2022
50 (1) :48-60
50 (1) :48-60
PMID: 36001116
Caron NS, Haqqani AS, Sandhu A, Aly AE, Findlay Black H, Bone JN, McBride JL, Abulrob A, Stanimirovic D, Leavitt BR, Hayden MR
Cerebrospinal fluid biomarkers for assessing Huntington disease onset and severity
Gu BM, Berke JD
Altered basal ganglia output during self-restraint
Hassan YR, Brogueira Rodrigues F, Zeun P, Byrne LM, Estevez-Fraga C, Tortelli R, Scahill RI, Wild EJ, Tabrizi SJ
Lumbar puncture safety and tolerability in premanifest and manifest Huntington's disease: a multi-analysis cross-sectional study