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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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
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
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
November 21, 2022
PMID: 36409662
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
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
November 1, 2022
PMID: 36318082
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
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
HGG Adv
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
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
September 29, 2022
PMID: 36173150
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
September 29, 2022
PMID: 36189602
Schultz JL, Epping EA, van der Plas E, Magnotta VA, Nopoulos PC
Striatal development in early-onset Huntington's disease
Mov Disord
September 29, 2022
PMID: 36177602
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
September 26, 2022
4 (1) :100146
PMID: 36262216
PMCID: 9574884
Maibach HT, Brownstein MJ, Hersch SM, Anderson KE, Itzkowitz DE, Damiano EM, Simon NG
The vasopressin 1a receptor antagonist SRX246 reduces aggressive behavior in Huntington's disease
J Pers Med
September 22, 2022
12 (10) :1561
PMID: 36294700
Macabuag N, Esmieu W, Breccia P, Jarvis R, Blackaby W, Lazari O, Urbonas L, Eznarriaga M, Williams R, Strijbosch A, Van de Bospoort R, Matthews K, Clissold C, Ladduwahetty T, Vater H, Heaphy P, Stafford DG, Wang HJ, Mangette JE, McAllister G, Beaumont V, Vogt TF, Wilkinson HA, Doherty EM, Dominguez C
Developing HDAC4-selective protein degraders to investigate the role of HDAC4 in Huntington's disease pathology
J Med Chem
September 22, 2022
65 (18) :12445-12459
PMID: 36098485
PMCID: 9512014
Randazzo P, Sinisi R, Gornati D, Bertuolo S, Bencheva L, De Matteo M, Nibbio M, Monteagudo E, Turcano L, Bianconi V, Peruzzi G, Summa V, Bresciani A, Mozzetta C, Di Fabio R
Identification and in vitro characterization of a new series of potent and highly selective G9a inhibitors as novel anti-fibroadipogenic agents
Bioorg Med Chem Lett
September 15, 2022
72 :128858
PMID: 35718104
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
September 12, 2022
PMID: 36120787
Shin JW, Hong EP, Park SS, Choi DE, Zeng S, Chen RZ, Lee JM
PAM-altering SNP-based allele-specific CRISPR-Cas9 therapeutic strategies for Huntington's disease
Mol Ther Methods Clin Dev
September 8, 2022
26 :547-561
PMID: 36092363
PMCID: 9450073
Neueder A, Kojer K, Hering T, Lavery DJ, Chen J, Birth N, Hallitsch J, Trautmann S, Parker J, Flower M, Sethi H, Haider S, Lee JM, Tabrizi SJ, Orth M
Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Genome Biol
September 7, 2022
23 (1) :189
PMID: 36071529
Lobanov SV, McAllister B, McDade-Kumar M, Landwehrmeyer GB, Orth M, Rosser AE, REGISTRY Investigators of the European Huntington’s disease network, Paulsen JS, PREDICT-HD Investigators of the Huntington Study Group, Lee JM, MacDonald ME, Gusella JF, Long JD, Ryten M, Williams NM, Holmans P, Massey TH, Jones L
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1
NPJ Genom Med
September 5, 2022
7 (1) :53
PMID: 36064847
PMCID: 9445028
Subramaniam S
Striatal induction and spread of the Huntington's disease protein: A novel rhes route
J Huntingtons Dis
August 30, 2022
11 (3) :281-290
PMID: 35871361
Fodale V, Pintauro R, Daldin M, Spiezia MC, Macdonald D, Bresciani A
Quantifying huntingtin protein in human cerebrospinal fluid using a novel polyglutamine length-independent assay
J Huntingtons Dis
August 30, 2022
11 (3) :291-305
PMID: 35938256
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
July 31, 2022
:ddac165
PMID: 35908190
Ladduwahetty T, Lee MR, Maillard MC, Cachope R, Todd D, Barnes M, Beaumont V, Chauhan A, Gallati C, Haughan AF, Kempf G, Luckhurst CA, Matthews K, McAllister G, Mitchell P, Patel H, Rose M, Saville-Stones E, Steinbacher S, Stott AJ, Thatcher E, Tierney J, Urbonas L, Munoz-Sanjuan I, Dominguez C
Identification of a potent, selective, and brain-penetrant rho kinase inhibitor and its activity in a mouse model of Huntington's disease
J Med Chem
July 28, 2022
65 (14) :9819-9845
PMID: 35816678
Paul BD, Sbodio JI, Snyder SH
Mutant huntingtin derails cysteine metabolism in Huntington's disease at both transcriptional and post-translational levels
Antioxidants (Basel)
July 27, 2022
11 (8) :1470
PMID: 36009188
PMCID: 9404835
Achenbach J, Saft C, Faissner S, Ellrichmann G
Positive effect of immunomodulatory therapies on disease progression in Huntington's disease? Data from a real-world cohort
Ther Adv Neurol Disord
July 27, 2022
15
PMID: 35899100
PMCID: 9310279
Xu S, Li G, Ye X, Chen D, Chen Z, Xu Z, Daniele M, Tambone S, Ceccacci A, Tomei L, Ye L, Yu Y, Solbach A, Farmer SM, Stimming EF, McAllister G, Marchionini DM, Zhang S
HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis
PLoS Genet
July 19, 2022
18 (7) :e1010302
PMID: 35853002
Vignone D, Gonzalez Paz O, Fini I, Cellucci A, Auciello G, Battista MR, Gloaguen I, Fortuni S, Cariulo C, Khetarpal V, Dominguez C, Muñoz-Sanjuán I, Di Marco A
Modelling the human blood-brain barrier in Huntington disease
Int J Mol Sci
July 15, 2022
23 (14) :7813
PMID: 35887162
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
HGG Adv
July 11, 2022
3 (4) :100130
PMID: 35935919
PMCID: 9352962
Reasoner EE, van der Plas E, Al-Kaylani HM, Langbehn DR, Conrad AL, Schultz JL, Epping EA, Magnotta VA, Nopoulos PC
Behavioral features in child and adolescent huntingtin gene-mutation carriers
Brain Behav
July 1, 2022
12 (7) :e2630
PMID: 35604958
Byrne LM, Schultz JL, Rodrigues FB, van der Plas E, Langbehn D, Nopoulos PC, Wild EJ
Neurofilament light protein as a potential blood biomarker for Huntington's disease in children
Mov Disord
July 1, 2022
37 (7) :1526-1531
PMID: 35437792
Tabrizi SJ, Estevez-Fraga C, van Roon-Mom WMC, Flower MD, Scahill RI, Wild EJ, Muñoz-Sanjuan I, Sampaio C, Rosser AE, Leavitt BR
Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities
Lancet Neurol
July 1, 2022
21 (7) :645-658
PMID: 35716694
Tabrizi SJ, Schobel S, Gantman EC, Mansbach A, Borowsky B, Konstantinova P, Mestre TA, Panagoulias J, Ross CA, Zauderer M, Mullin AP, Romero K, Sivakumaran S, Turner EC, Long JD, Sampaio C, Huntington’s Disease Regulatory Science Consortium (HD-RSC)
A biological classification of Huntington's disease: the Integrated Staging System
Lancet Neurol
July 1, 2022
21 (7) :632-644
PMID: 35716693