Scientific Publications

Listed here are over 900 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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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
March 15, 2023
PMID: 36931390
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
Duan W, Urani E, Mattson MP
The potential of gene editing for Huntington's disease
Trends Neurosci
March 10, 2023
PMID: 36907678
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
Khakh BS, Goldman SA
Astrocytic contributions to Huntington's disease pathophysiology
Ann N Y Acad Sci
March 2, 2023
PMID: 36864567
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
PMCID: 1001347
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
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
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 6, 2023
42 (1) :111953
PMID: 36640336
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
January 4, 2023
PMID: 36617787
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 20, 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
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
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 1, 2022
30 (12)
PMID: 35965414
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
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
November 24, 2022
PMID: 36421029
Gu BM, Berke JD
Altered basal ganglia output during self-restraint
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
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
Dawson J, Baine-Savanhu FK, Ciosi M, Maxwell A, Monckton DG, Krause A
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry
October 13, 2022
3 (4) :100130
PMID: 35935919
PMCID: 9352962
Lowe AJ, Rodrigues FB, Arridge M, De Vita E, Johnson EB, Scahill RI, Byrne LM, Tortelli R, Heslegrave A, Zetterberg H, Wild EJ
Longitudinal evaluation of proton magnetic resonance spectroscopy metabolites as biomarkers in Huntington's disease
Brain Commun
October 12, 2022
4 (6) :fcac258
PMID: 36382217
PMCID: 9665272
Shin JW, Hong EP, Park SS, Choi DE, Seong IS, Whittaker MN, Kleinstiver BP, Chen RZ, Lee JM
Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR-Cas9
JCI Insight
October 10, 2022
7 (19) :e141042
PMID: 36040815
Conroy F, Miller R, Alterman JF, Hassler MR, Echeverria D, Godinho BMDC, Knox EG, Sapp E, Sousa J, Yamada K, Mahmood F, Boudi A, Kegel-Gleason K, DiFiglia M, Aronin N, Khvorova A, Pfister EL
Chemical engineering of therapeutic siRNAs for allele-specific gene silencing in Huntington's disease models
Nat Commun
October 3, 2022
13 (1) :5802
PMID: 36192390
Bertoglio D, Zajicek F, Lombaerde S, Miranda A, Stroobants S, Wang Y, Dominguez C, Munoz-Sanjuan I, Bard J, Liu L, Verhaeghe J, Staelens S
Validation, kinetic modeling, and test-retest reproducibility of [18F]SynVesT-1 for PET imaging of synaptic vesicle glycoprotein 2A in mice
J Cereb Blood Flow Metab
October 1, 2022
42 (10) :1867-1878
PMID: 35570828
PMCID: 9536120