Scientific Publications

Listed here are over 980 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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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
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
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
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
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
PMCID: 7613206
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
Nazarov S, Chiki A, Boudeffa D, Lashuel HA
Structural basis of huntingtin fibril polymorphism revealed by cryogenic electron microscopy of exon 1 HTT fibrils
J Am Chem Soc
June 22, 2022
144 (24) :10723-10735
PMID: 35679155
Medaglia JD, Erickson BA, Pustina D, Kelkar AS, DeMarco AT, Dickens JV, Turkeltaub PE
Simulated attack reveals how lesions affect network properties in poststroke aphasia
J Neurosci
June 15, 2022
42 (24) :4913-4926
PMID: 35545436
PMCID: 9188386
Warner JH, Long JD, Mills JA, Langbehn DR, Ware J, Mohan A, Sampaio C
Standardizing the CAP score in Huntington's disease by predicting age-at-onset
J Huntingtons Dis
June 3, 2022
11 (2) :153-171
PMID: 35466943
Reasoner EE, van der Plas E, Langbehn DR, Conrad AL, Koscik TR, Epping EA, Magnotta VA, Nopoulos PC
Cortical features in child and adolescent carriers of mutant huntingtin (mHTT)
J Huntingtons Dis
June 3, 2022
11 (2) :173-178
PMID: 35275555
PMCID: 9177765
Turner EC, Gantman EC, Sampaio C, Sivakumaran S
Huntington's Disease Regulatory Science Consortium: accelerating medical product development
J Huntingtons Dis
June 3, 2022
11 (2) :97-104
PMID: 35466945
Exuzides A, To TM, Abbass IM, Ta JT, Patel AM, Surinach A, Fuller RLM, Luo J
Healthcare resource utilization and costs in individuals with Huntington's disease by disease stage in a US population
J Med Econ
June 3, 2022
25 (1) :722-729
PMID: 35608039
Rosser AE, Busse ME, Gray WP, Aron Badin R, Perrier AL, Wheelock V, Cozzi E, Perpiña Martin U, Salado-Manzano C, Mills LJ, Drew C, Goldman SA, Canals JM, Thompson LM
Translating cell therapies for neurodegenerative diseases: Huntington's disease as a model disorder
Brain
June 3, 2022
145 (5) :1584-1597
PMID: 35262656
PMCID: 9166564
Bertoglio D, Verhaeghe J, Wyffels L, Miranda A, Stroobants S, Mrzljak L, Dominguez C, Skinbjerg M, Bard J, Liu L, Munoz-Sanjuan I, Staelens S
Synaptic vesicle glycoprotein 2A is affected in the CNS of Huntington's Disease mice and post-mortem human HD brain
J Nucl Med
June 1, 2022
63 (6) :942-947
PMID: 34531262
Shin JW, Shin A, Park SS, Lee JM
Haplotype-specific insertion-deletion variations for allele-specific targeting in Huntington's disease
Mol Ther Methods Clin Dev
June 1, 2022
25 :84-95
PMID: 35356757
PMCID: 8933729
Tan B, Shishegar R, Fornito A, Poudel G, Georgiou-Karistianis N
Longitudinal mapping of cortical surface changes in Huntington's disease
Brain Imaging Behav
June 1, 2022
16 (3) :1381-1391
PMID: 35029800
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
Am J Hum Genet
May 5, 2022
109 (5) :885-899
PMID: 35325614
PMCID: 9118113
Barbé L, Finkbeiner S
Genetic and epigenetic interplay define disease onset and severity in repeat diseases
Front Aging Neurosci
May 3, 2022
14 :750629
PMID: 35592702
PMCID: 9110800
Langbehn DR, Fine EM, Meier A, Hersch S
Utility of the Huntington's disease prognostic index score for a perimanifest clinical trial
Mov Disord
May 1, 2022
37 (5) :1040-1046
PMID: 35170086