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.

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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 16, 2022
PMID: 35570828
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
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
Turner EC, Gantman EC, Sampaio C, Sivakumaran S
Huntington's Disease Regulatory Science Consortium: accelerating medical product development
J Huntingtons Dis
April 20, 2022
PMID: 35466945
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
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
April 19, 2022
PMID: 35466943
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
April 18, 2022
PMID: 35437792
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
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
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
March 23, 2022
PMID: 35325614
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
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
March 9, 2022
PMID: 35262656
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
March 7, 2022
PMID: 35275555
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
March 4, 2022
25 :84-95
PMID: 35356757
PMCID: 8933729
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
Langbehn DR, Fine EM, Meier A, Hersch S
Utility of the Huntington's disease prognostic index score for a perimanifest clinical trial
Mov Disord
February 16, 2022
PMID: 35170086
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
Iennaco R, Formenti G, Trovesi C, Rossi RL, Zuccato C, Lischetti T, Bocchi VD, Scolz A, Martínez-Labarga C, Rickards O, Pacifico M, Crottini A, Møller AP, Chen RZ, Vogt TF, Pavesi G, Horner DS, Saino N, Cattaneo E
The evolutionary history of the polyQ tract in huntingtin sheds light on its functional pro-neural activities
Cell Death Differ
February 1, 2022
29 (2) :293-305
PMID: 34974533
Hirschberg S, Dvorzhak A, Rasooli-Nejad SMA, Angelov S, Kirchner M, Mertins P, Lättig-Tünnemann G, Harms C, Schmitz D, Grantyn R
Uncoupling the excitatory amino acid transporter 2 from its C-terminal interactome restores synaptic glutamate clearance at corticostriatal synapses and alleviates mutant huntingtin-induced hypokinesia
Front Cell Neurosci
January 31, 2022
15 :792652
PMID: 35173582
PMCID: 8841566
Fote GM, Geller NR, Efstathiou N, Hendricks N, Vavvas DG, Reidling JC, Thompson LM, Steffan JS
Isoform-dependent lysosomal degradation and internalization of Apolipoprotein E requires autophagy proteins
J Cell Sci
January 25, 2022
135 (2) :jcs.258687
PMID: 34982109
Oikemus SR, Pfister E, Sapp E, Chase KO, Kennington LA, Hudgens E, Miller R, Zhu LJ, Chaudhary A, Mick EO, Sena-Esteves M, Wolfe SA, DiFiglia M, Aronin N, Brodsky MH
Allele-specific knockdown of mutant HTT protein via editing at coding region SNP heterozygosities
Hum Gene Ther
January 17, 2022
33 (1-2) :25-36
PMID: 34376056
Tan B, Shishegar R, Fornito A, Poudel G, Georgiou-Karistianis N
Longitudinal mapping of cortical surface changes in Huntington's disease
Brain Imaging Behav
January 14, 2022
PMID: 35029800
Wang W, Zhou P, Wang X, Chen F, Christensen E, Thompson J, Ren X, Kells A, Stanek L, Carter T, Hou J, Sah DWY
Efficient and precise processing of the optimized primary artificial microRNA in a huntingtin-lowering adeno-associated viral gene therapy in vitro and in mice and nonhuman primates
Hum Gene Ther
January 10, 2022
33 (1-2) :37-60
PMID: 34806402
Zeun P, McColgan P, Dhollander T, Gregory S, Johnson EB, Papoutsi M, Nair A, Scahill RI, Rees G, Tabrizi SJ, TrackOn-HD and HD-YAS Investigators
Timing of selective basal ganglia white matter loss in premanifest Huntington's disease
Neuroimage Clin
January 6, 2022
33 :102927
PMID: 34999565
Ferreira JJ, Rodrigues FB, Duarte GS, Mestre TA, Bachoud-Levi AC, Bentivoglio AR, Burgunder JM, Cardoso F, Claassen DO, Landwehrmeyer GB, Kulisevsky J, Nirenberg MJ, Rosser A, Roth J, Seppi K, Slawek J, Furr-Stimming E, Tabrizi SJ, Walker FO, Vandenberghe W, Costa J, Sampaio C
A MDS evidence-based review on treatments for Huntington's disease
Mov Disord
January 3, 2022
37 (1) :25-35
PMID: 34842303
Pace JB, Huang NN, Séguin JP, Esquina C, Olin E, Zhu G, Carr G
Efficient and scalable production of full-length human huntingtin variants in mammalian cells using a transient expression system
J Vis Exp
December 10, 2021
178 :e63190
PMID: 34958078
Harding RJ, Deme JC, Hevler JF, Tamara S, Lemak A, Cantle JP, Szewczyk MM, Begeja N, Goss S, Zuo X, Loppnau P, Seitova A, Hutchinson A, Fan L, Truant R, Schapira M, Carroll JB, Heck AJR, Lea SM, Arrowsmith CH
Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon
Commun Biol
December 8, 2021
4 (1) :1374
PMID: 34880419
Sönmez A, Mustafa R, Ryll ST, Tuorto F, Wacheul L, Ponti D, Litke C, Hering T, Kojer K, Koch J, Pitzer C, Kirsch J, Neueder A, Kreiner G, Lafontaine DLJ, Orth M, Liss B, Parlato R
Nucleolar stress controls mutant Huntington toxicity and monitors Huntington's disease progression
Cell Death Dis
December 8, 2021
12 (12) :1139
PMID: 34880223
Yamada K, Hildebrand S, Davis SM, Miller R, Conroy F, Sapp E, Caiazzi J, Alterman JF, Roux L, Echeverria D, Hassler MR, Pfister EL, DiFiglia M, Aronin N, Khvorova A
Structurally constrained phosphonate internucleotide linkage impacts oligonucleotide-enzyme interaction, and modulates siRNA activity and allele specificity
Nucleic Acids Res
December 2, 2021
49 (21) :12069-12088
PMID: 34850120
PMCID: 8643693
Tang H, van Eimeren T, Sampaio C, Mestre TA
Validation of biomarkers in Huntington disease to support the development of disease-modifying therapies: A systematic review and critical appraisal scheme
Parkinsonism Relat Disord
December 1, 2021
93 :89-96
PMID: 34864305
Riguet N, Mahul-Mellier AL, Maharjan N, Burtscher J, Croisier M, Knott G, Hastings J, Patin A, Reiterer V, Farhan H, Nasarov S, Lashuel HA
Nuclear and cytoplasmic huntingtin inclusions exhibit distinct biochemical composition, interactome and ultrastructural properties
Nat Commun
November 12, 2021
12 (1) :6579
PMID: 34772920
Mears ER, Handley RR, Grant MJ, Reid SJ, Day BT, Rudiger SR, McLaughlan CJ, Verma PJ, Bawden SC, Patassini S, Unwin RD, Cooper GJS, Gusella JF, MacDonald ME, Brauning R, Maclean P, Pearson JF, Waldvogel HJ, Faull RLM, Snell RG
A multi-omic Huntington's disease transgenic sheep-model database for investigating disease pathogenesis
J Huntingtons Dis
November 9, 2021
10 (4) :423-434
PMID: 34420978
Chongtham A, Isas JM, Pandey NK, Rawat A, Yoo JH, Mastro T, Kennedy M, Langen R, Khoshnan A
Amplification of neurotoxic HTTex1 assemblies in human neurons
Neurobiol Dis
November 1, 2021
159 :105517
PMID: 34563643
Abeyasinghe PM, Long JD, Razi A, Pustina D, Paulsen JS, Tabrizi SJ, Poudel GR, Georgiou-Karistianis N
Tracking Huntington's disease progression using motor, functional, cognitive, and imaging markers
Mov Disord
October 25, 2021
36 (10) :2282-2292
PMID: 34014005
PMCID: 8590922