CHDI
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.
Publication Search
Title
Journal
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Subramaniam S
Striatal induction and spread of the Huntington's disease protein: A novel rhes route
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
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
Paul BD, Sbodio JI, Snyder SH
Mutant huntingtin derails cysteine metabolism in Huntington's disease at both transcriptional and post-translational levels
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
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
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
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
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