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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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
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
Mov Disord
January 1, 2023
38 (1) :113-122
PMID: 36318082
PMCID: 9851979
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
Cell Death Dis
December 30, 2022
13 (12) :1078
PMID: 36585400
PMCID: 9803637
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
Prog Neurobiol
December 30, 2022
219 :102363
PMID: 36179935
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
Neurol Clin Pract
December 30, 2022
12 (6) :e172-e180
PMID: 36540140
PMCID: 9757103
Schultz JL, Epping EA, van der Plas E, Magnotta VA, Nopoulos PC
Striatal development in early-onset Huntington's disease
Mov Disord
December 19, 2022
37 (12) :2459-2460
PMID: 36177602
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
Cell Rep Methods
December 19, 2022
2 (12) :100367
PMID: 36590694
PMCID: 9795363
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
J Huntingtons Dis
December 16, 2022
11 (4) :391-406
PMID: 36189602
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
J Huntingtons Dis
December 16, 2022
11 (4) :407-413
PMID: 36120787
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
Mol Ther
December 7, 2022
30 (12) :3619-3631
PMID: 35965414
PMCID: 9734028
Castro E, Polosecki P, Pustina D, Wood A, Sampaio C, Cecchi GA
Predictive modeling of Huntington's disease unfolds thalamic and caudate atrophy dissociation
Mov Disord
December 2, 2022
37 (12) :2407-2416
PMID: 36173150
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
Brain Imaging Behav
December 2, 2022
16 (6) :2457-2466
PMID: 35768755
PMCID: 9712302
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
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
Brain Commun
November 25, 2022
4 (6) :fcac309
PMID: 36523269
PMCID: 9746690
Gu BM, Berke JD
Altered basal ganglia output during self-restraint
Elife
November 2, 2022
11 :e82143
PMID: 36321810
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
Sci Rep
November 1, 2022
12 (1) :18377
PMID: 36319718
To TM, Exuzides A, Abbass IM, Patel AM, Ta JT, Surinach A, Fuller RLM, Luo J
Health care resource utilization and costs among individuals with vs without Huntington disease in a US population
J Manag Care Spec Pharm
November 1, 2022
28 (11) :1228-1239
PMID: 36282937
Marchionini DM, Liu JP, Ambesi-Impiombato A, Kerker K, Cirillo K, Bansal M, Mushlin R, Brunner D, Ramboz S, Kwan M, Kuhlbrodt K, Tillack K, Peters F, Rauhala L, Obenauer J, Greene JR, Hartl C, Khetarpal V, Lager B, Rosinski J, Aaronson J, Alam M, Signer E, Muñoz-Sanjuán I, Howland D, Zeitlin SO
Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model
JCI Insight
October 24, 2022
7 (20) :e161769
PMID: 36278490
Wang N, Langfelder P, Stricos M, Ramanathan L, Richman JB, Vaca R, Plascencia M, Gu X, Zhang S, Tamai TK, Zhang L, Gao F, Ouk K, Lu X, Ivanov LV, Vogt TF, Lu QR, Morton AJ, Colwell CS, Aaronson JS, Rosinski J, Horvath S, Yang XW
Mapping brain gene coexpression in daytime transcriptomes unveils diurnal molecular networks and deciphers perturbation gene signatures
Neuron
October 19, 2022
110 (20) :3318-3338.e9
PMID: 36265442
Ly S, Didiot MC, Ferguson CM, Coles AH, Miller R, Chase K, Echeverria D, Wang F, Sadri-Vakili G, Aronin N, Khvorova A
Mutant huntingtin messenger RNA forms neuronal nuclear clusters in rodent and human brains
Brain Commun
October 13, 2022
4 (6) :fcac248
PMID: 36458209
PMCID: 9707646