Scientific Publications

Listed here are over 850 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

Authors

Title

Journal

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 4, 2022
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
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
Subramaniam S
Striatal induction and spread of the Huntington's disease protein: A novel rhes route
J Huntingtons Dis
July 18, 2022
PMID: 35871361
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
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
June 29, 2022
PMID: 35768755
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
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
May 14, 2022
PMID: 35570828
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
Nair A, Razi A, Gregory S, Rutledge RB, Rees G, Tabrizi SJ
Imbalanced basal ganglia connectivity is associated with motor deficits and apathy in Huntington's disease
Brain
April 29, 2022
145 (3) :991-1000
PMID: 34633421
PMCID: 9050569
Piccolo FM, Kastan NR, Haremaki T, Tian Q, Laundos TL, De Santis R, Beaudoin AJ, Carroll TS, Luo JD, Gnedeva K, Etoc F, Hudspeth AJ, Brivanlou AH
Role of YAP in early ectodermal specification and a Huntington's Disease model of human neurulation
Elife
April 22, 2022
11 :e73075
PMID: 35451959
PMCID: 9033270
Greco TM, Secker C, Ramos ES, Federspiel JD, Liu JP, Perez AM, Al-Ramahi I, Cantle JP, Carroll JB, Botas J, Zeitlin SO, Wanker EE, Cristea IM
Dynamics of huntingtin protein interactions in the striatum identifies candidate modifiers of Huntington disease
Cell Syst
April 20, 2022
13 (4) :304-320.e5
PMID: 35148841
Fischer DF, Dijkstra S, Lo K, Suijker J, Correia ACP, Naud P, Poirier M, Tessari MA, Boogaard I, Flynn G, Visser M, Lamers MBAC, McAllister G, Munoz-Sanjuan I, Macdonald D
Development of mAb-based polyglutamine-dependent and polyglutamine length-independent huntingtin quantification assays with cross-site validation
PLoS One
April 8, 2022
17 (4) :e0266812
PMID: 35395060
PMCID: 8992994
Gu X, Richman J, Langfelder P, Wang N, Zhang S, Bañez-Coronel M, Wang HB, Yang L, Ramanathan L, Deng L, Park CS, Choi CR, Cantle JP, Gao F, Gray M, Coppola G, Bates GP, Ranum LPW, Horvath S, Colwell CS, Yang XW
Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice
Neuron
April 6, 2022
110 (7) :1173-1192.e7
PMID: 35114102
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE, REGISTRY Investigators of EHDN, Paulsen JS, PREDICT-HD Investigators of HSG, Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
Nat Neurosci
April 4, 2022
25 (4) :446-457
PMID: 35379994
PMCID: 8986535
Bertoglio D, Verhaeghe J, Miranda A, Wyffels L, Stroobants S, Mrzljak L, Khetarpal V, Skinbjerg M, Liu L, Dominguez C, Munoz-Sanjuan I, Bard J, Staelens S
Longitudinal preclinical evaluation of the novel radioligand [11C]CHDI-626 for PET imaging of mutant huntingtin aggregates in Huntington's disease
Eur J Nucl Med Mol Imaging
March 29, 2022
49 (4) :1166-1175
PMID: 34651228
PMCID: 8921134
Ramírez-Jarquín UN, Sharma M, Shahani N, Li Y, Boregowda S, Subramaniam S
Rhes protein transits from neuron to neuron and facilitates mutant huntingtin spreading in the brain
Sci Adv
March 25, 2022
8 (12) :eabm3877
PMID: 35319973
Mohan A, Sun Z, Ghosh S, Li Y, Sathe S, Hu J, Sampaio C
A machine-learning derived Huntington's disease progression model: Insights for clinical trial design
Mov Disord
March 22, 2022
37 (3) :553-562
PMID: 34870344
Callahan JW, Wokosin DL, Bevan MD
Dysregulation of the basal ganglia indirect pathway in early symptomatic Q175 Huntington's disease mice
J Neurosci
March 9, 2022
42 (10) :2080-2102
PMID: 35058372
PMCID: 8916764
Rodrigues FB, Owen G, Sathe S, Pak E, Kaur D, Ehrhardt AG, Lifer S, Townhill J, Schubert K, Leavitt BR, Guttman M, Bang J, Lewerenz J, Levey J, HDClarity Investigators, Sampaio C, Wild EJ
Safety and feasibility of research lumbar puncture in Huntington's disease: The HDClarity cohort and bioresource
J Huntingtons Dis
March 1, 2022
11 (1) :59-69
PMID: 35253773
Bertoglio D, Bard J, Hessmann M, Liu L, Gärtner A, De Lombaerde S, Huscher B, Zajicek F, Miranda A, Peters F, Herrmann F, Schaertl S, Vasilkovska T, Brown CJ, Johnson PD, Prime ME, Mills MR, Van der Linden A, Mrzljak L, Khetarpal V, Wang Y, Marchionini DM, Skinbjerg M, Verhaeghe J, Dominguez C, Staelens S, Munoz-Sanjuan I
Development of a ligand for in vivo imaging of mutant huntingtin in Huntington's disease
Sci Transl Med
February 2, 2022
14 (630) :eabm3682
PMID: 35108063
Ramírez-Jarquín UN, Sharma M, Zhou W, Shahani N, Subramaniam S
Deletion of SUMO1 attenuates behavioral and anatomical deficits by regulating autophagic activities in Huntington disease
Proc Natl Acad Sci USA
February 1, 2022
119 (5) :e2107187119
PMID: 35086928