Scientific Publications

Listed here are over 800 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, 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
September 16, 2021
PMID: 34531262
Khetarpal V, Herbst T, Shefchek D, Ash S, Fitzsimmons M, Gohdes M, Munoz-Sanjuan I, Dominguez C
Pharmacokinetics and metabolic disposition of a potent and selective kynurenine monooxygenase inhibitor, CHDI-340246, in laboratory animals
Xenobiotica
September 15, 2021
:1-26
PMID: 34496722
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)
Huntington's disease Integrated Staging System (HD-ISS): A novel evidence-based classification system for staging
medRxiv
September 11, 2021
:21262503
Herrmann F, Hessmann M, Schaertl S, Berg-Rosseburg K, Brown CJ, Bursow G, Chiki A, Ebneth A, Gehrmann M, Hoeschen N, Hotze M, Jahn S, Johnson PD, Khetarpal V, Kiselyov A, Kottig K, Ladewig S, Lashuel H, Letschert S, Mills MR, Petersen K, Prime ME, Scheich C, Schmiedel G, Wityak J, Liu L, Dominguez C, Muñoz-Sanjuán I, Bard JA
Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates
Sci Rep
September 9, 2021
11 (1) :17977
PMID: 34504195
van Duijn E, Fernandes AR, Abreu D, Ware JJ, Neacy E, Sampaio C
Incidence of completed suicide and suicide attempts in a global prospective study of Huntington's disease
BJPsych Open
August 31, 2021
7 (5) :e158
PMID: 34462049
Goold R, Hamilton J, Menneteau T, Flower M, Bunting EL, Aldous SG, Porro A, Vicente JR, Allen ND, Wilkinson H, Bates GP, Sartori AA, Thalassinos K, Balmus G, Tabrizi SJ
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease
Cell Rep
August 31, 2021
36 (9) :109649
PMID: 34469738
Liu L, Johnson PD, Prime ME, Khetarpal V, Lee MR, Brown CJ, Chen X, Clark-Frew D, Coe S, Conlon M, Davis R, Ensor S, Esposito S, Moren AF, Gai X, Green S, Greenaway C, Haber J, Halldin C, Hayes S, Herbst T, Herrmann F, Heßmann M, Hsai MM, Kotey A, Mangette JE, Mills MR, Monteagudo E, Nag S, Nibbio M, Orsatti L, Schaertl S, …Dominguez C
[11C]CHDI-626, a PET tracer candidate for imaging mutant huntingtin aggregates with reduced binding to AD pathological proteins
J Med Chem
August 26, 2021
64 (16) :12003-12021
PMID: 34351166
Sathe S, Ware J, Levey J, Neacy E, Blumenstein R, Noble S, Mühlbäck A, Rosser A, Landwehrmeyer GB, Sampaio C
Enroll-HD: An integrated clinical research platform and worldwide observational study for Huntington's disease
Front Neurol
August 18, 2021
12 :667420
PMID: 34484094
PMCID: 8416308
Schulze-Krebs A, Canneva F, Stemick J, Plank AC, Harrer J, Bates GP, Aeschlimann D, Steffan JS, von Hörsten S
Transglutaminase 6 is colocalized and interacts with mutant huntingtin in Huntington disease rodent animal models
Int J Mol S
August 18, 2021
22 (16) :8914
PMID: 34445621
PMCID: 8396294
Wang H, Del Mar N, Deng Y, Reiner A
Rescue of BDNF expression by the thalamic parafascicular nucleus with chronic treatment with the mGluR2/3 agonist LY379268 may contribute to the LY379268 rescue of enkephalinergic striatal projection neurons in R6/2 Huntington's disease mice
Neurosci Lett
August 17, 2021
:136180
PMID: 34416343
Aaronson J, Beaumont V, Blevins RA, Andreeva V, Murasheva I, Shneyderman A, Armah K, Gill R, Chen J, Rosinski J, Park LC, Coppola G, Munoz-Sanjuan I, Vogt TF
HDinHD: A rich data portal for Huntington's disease research
J Huntingtons Dis
August 8, 2021
PMID: 34397420
Wijeratne PA, Johnson EB, Gregory S, Georgiou-Karistianis N, Paulsen JS, Scahill RI, Tabrizi SJ, Alexander DC
A multi-study model-based evaluation of the sequence of imaging and clinical biomarker changes in Huntington's disease
Front Big Data
August 5, 2021
4 :662200
PMID: 34423286
PMCID: 8374237
Wang Y, Guo X, Ye K, Orth M, Gu Z
Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease
Proc Natl Acad Sci USA
July 27, 2021
118 (30) :e2014610118
PMID: 34301881
Raj A, Powell F
Network model of pathology spread recapitulates neurodegeneration and selective vulnerability in Huntington's disease
Neuroimage
July 15, 2021
235 :118008
PMID: 33789134
Abreu D, Ware J, Georgiou-Karistianis N, Leavitt BR, Fitzer-Attas CJ, Lobo R, Fernandes AR, Handley O, Anderson KE, Stout JC, Sampaio C
Utility of Huntington's disease assessments by disease stage: Floor/ceiling effects
Front Neurol
July 15, 2021
12 :595679
PMID: 34335433
PMCID: 8320772
Mario Isas J, Pandey NK, Xu H, Teranishi K, Okada AK, Fultz EK, Rawat A, Applebaum A, Meier F, Chen J, Langen R, Siemer AB
Huntingtin fibrils with different toxicity, structure, and seeding potential can be interconverted
Nat Commun
July 13, 2021
12 (1) :4272
PMID: 34257293
PMCID: 8277859
Zhang Y, Zhou J, Gehl CR, Long JD, Johnson H, Magnotta VA, Sewell D, Shannon K, Paulsen JS
Mild cognitive impairment as an early landmark in Huntington's disease
Front Neurol
July 7, 2021
12 :678652
PMID: 34305789
PMCID: 8292715
Kolla R, Gopinath P, Ricci J, Reif A, Rostami I, Lashuel HA
A new chemoenzymatic semisynthetic approach provides insight into the role of phosphorylation beyond exon1 of huntingtin and reveals n-terminal fragment length-dependent distinct mechanisms of aggregation
J Am Chem Soc
July 7, 2021
143 (26) :9798-9812
PMID: 34161085
Benraiss A, Mariani JN, Osipovitch M, Cornwell A, Windrem MS, Villanueva CB, Chandler-Militello D, Goldman SA
Cell-intrinsic glial pathology is conserved across human and murine models of Huntington's disease
Cell Rep
July 6, 2021
36 (1) :109308
PMID: 34233199
Gusella JF, Lee JM, MacDonald ME
Huntington's disease: Nearly four decades of human molecular genetics
Hum Mol Genet
June 24, 2021
:ddab170
PMID: 34169318
Malaiya S, Cortes-Gutierrez M, Herb BR, Coffey SR, Legg SRW, Cantle JP, Colantuoni C, Carroll JB, Ament SA
Single-nucleus RNA-seq reveals dysregulation of striatal cell identity due to Huntington's disease mutations
J Neurosci
June 23, 2021
41 (25) :5534-5552
PMID: 34011527
Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
Association analysis of chromosome X to identify genetic modifiers of Huntington's disease
J Huntingtons Dis
June 22, 2021
PMID: 34180418
Schindler F, Praedel N, Neuendorf N, Kunz S, Schnoegl S, Mason MA, Taxy BA, Bates GP, Khoshnan A, Priller J, Grimm J, Maier M, Boeddrich A, Wanker EE
Small, seeding-competent huntingtin fibrils are prominent aggregate species in brains of zQ175 Huntington's disease knock-in mice
Front Neurosci
June 22, 2021
15 :682172
PMID: 34239412
PMCID: 8257939
Sap KA, Guler AT, Bury A, Dekkers D, Demmers JAA, Reits EA
Identification of full-length wild-type and mutant huntingtin interacting proteins by crosslinking immunoprecipitation in mice brain cortex
J Huntingtons Dis
June 12, 2021
PMID: 34151850
Seeley C, Kegel-Gleason KB
Taming the Huntington's disease proteome: What have we learned?
J Huntingtons Dis
June 9, 2021
10 (2) :239-257
PMID: 33998547
PMCID: 8293646
Rivetti di Val Cervo P, Besusso D, Conforti P, Cattaneo E
hiPSCs for predictive modelling of neurodegenerative diseases: dreaming the possible
Nat Rev Neurol
June 1, 2021
17 (6) :381-392
PMID: 33658662
PMCID: 7928200
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
May 20, 2021
PMID: 34014005
McAllister B, Gusella JF, Landwehrmeyer GB, Lee JM, MacDonald ME, Orth M, Rosser AE, Williams NM, Holmans P, Jones L, Massey TH, REGISTRY investigators of the European Huntington’s disease network
Timing and impact of psychiatric, cognitive, and motor abnormalities in Huntington disease
Neurology
May 11, 2021
96 (19) :e2395-e2406
PMID: 33766994
Bocchi VD, Conforti P, Vezzoli E, Besusso D, Cappadona C, Lischetti T, Galimberti M, Ranzani V, Bonnal RJP, De Simone M, Rossetti G, He X, Kamimoto K, Espuny-Camacho I, Faedo A, Gervasoni F, Vuono R, Morris SA, Chen J, Felsenfeld D, Pavesi G, Barker RA, Pagani M, Cattaneo E
The coding and long noncoding single-cell atlas of the developing human fetal striatum
Science
May 7, 2021
372 (6542) :eabf5759
PMID: 33958447
Deng Y, Wang H, Joni M, Sekhri R, Reiner A
Progression of basal ganglia pathology in heterozygous Q175 knock-in Huntington's disease mice
J Comp Neurol
May 1, 2021
529 (7) :1327-1371
PMID: 32869871
PMCID: 8049038
Gomez-Paredes C, Mason MA, Taxy BA, Papadopoulou AS, Paganetti P, Bates GP
The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction
Sci Rep
April 27, 2021
11 (1) :9117
PMID: 33907289
Jung R, Lee Y, Barker D, Correia K, Shin B, Loupe J, Collins RL, Lucente D, Ruliera J, Gillis T, Mysore JS, Rodan L, Picker J, Lee JM, Howland D, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs
Hum Mol Genet
April 26, 2021
30 (3-4) :135-148
PMID: 33432339
Van de Poël A, Toledo-Sherman L, Breccia P, Cachope R, Bate JR, Angulo-Herrera I, Wishart G, Matthews KL, Martin SL, Peacock M, Barnard A, Cox HC, Jones G, McAllister G, Vater H, Esmieu W, Clissold C, Lamers M, Leonard P, Jarvis RE, Blackaby W, Eznarriaga M, Lazari O, Yates D, Rose M, Jang SW, Muñoz-Sanjuan I, Dominguez C
Structure-based exploration of selectivity for ATM inhibitors in Huntington's disease
J Med Chem
April 22, 2021
64 (8) :5018-5036
PMID: 33783225
Onur TS, Laitman A, Zhao H, Keyho R, Kim H, Wang J, Mair M, Wang H, Li L, Perez A, de Haro M, Wan YW, Allen G, Lu B, Al-Ramahi I, Liu Z, Botas J
Downregulation of glial genes involved in synaptic function mitigates Huntington's disease pathogenesis
Elife
April 19, 2021
10 :e64564
PMID: 33871358
Zhou Y, Peskett TR, Landles C, Warner JB, Sathasivam K, Smith EJ, Chen S, Wetzel R, Lashuel HA, Bates GP, Saibil HR
Correlative light and electron microscopy suggests that mutant huntingtin dysregulates the endolysosomal pathway in presymptomatic Huntington's disease
Acta Neuropathol Commun
April 14, 2021
9 (1) :70
PMID: 33853668
Johnson EB, Ziegler G, Penny W, Rees G, Tabrizi SJ, Scahill RI, Gregory S
Dynamics of cortical degeneration over a decade in Huntington's disease
Biol Psychiatry
April 13, 2021
89 (8) :807-816
PMID: 33500176
PMCID: 7986936
Vas S, Nicol AU, Kalmar L, Miles J, Morton AJ
Abnormal patterns of sleep and EEG power distribution during non-rapid eye movement sleep in the sheep model of Huntington's disease
Neurobiol Dis
April 10, 2021
155 :105367
PMID: 33848636
Vallès A, Evers MM, Stam A, Sogorb-Gonzalez M, Brouwers C, Vendrell-Tornero C, Acar-Broekmans S, Paerels L, Klima J, Bohuslavova B, Pintauro R, Fodale V, Bresciani A, Liscak R, Urgosik D, Starek Z, Crha M, Blits B, Petry H, Ellederova Z, Motlik J, van Deventer S, Konstantinova P
Widespread and sustained target engagement in Huntington's disease minipigs upon intrastriatal microRNA-based gene therapy
Sci Transl Med
April 7, 2021
13 (588) :eabb8920
PMID: 33827977
Bertoglio D, Verhaeghe J, Miranda A, Wyffels L, Stroobants S, Dominguez C, Munoz-Sanjuan I, Skinbjerg M, Liu L, Staelens S
Kinetic modelling and test-retest reproducibility for the dopamine D1R radioligand [11C]SCH23390 in healthy and diseased mice
Mol Imaging Biol
April 2, 2021
23 (2) :208-219
PMID: 33179158
PMCID: 7910372
Iuliano M, Seeley C, Sapp E, Jones EL, Martin C, Li X, DiFiglia M, Kegel-Gleason KB
Disposition of proteins and lipids in synaptic membrane compartments is altered in Q175/Q7 Huntington's disease mouse striatum
Front Synaptic Neurosci
March 18, 2021
13 :618391
PMID: 33815086
PMCID: 8013775