CHDI
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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Title
Journal
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
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
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
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
Kinnunen KM, Mullin AP, Pustina D, Turner EC, Burton J, Gordon MF, Scahill RI, Gantman EC, Noble S, Romero K, Georgiou-Karistianis N, Schwarz AJ
Recommendations to optimize the use of volumetric MRI in Huntington's disease clinical trials
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
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
Heikkinen T, Bragge T, Kuosmanen J, Parkkari T, Gustafsson S, Kwan M, Beltran J, Ghavami A, Subramaniam S, Shahani N, Ramírez-Jarquín UN, Park L, Muñoz-Sanjuán I, Marchionini DM
Global Rhes knockout in the Q175 Huntington's disease mouse model
Lemarié FL, Caron NS, Sanders SS, Schmidt ME, Nguyen YTN, Ko S, Xu X, Pouladi MA, Martin DDO, Hayden MR
Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity
Galgoczi S, Ruzo A, Markopoulos C, Yoney A, Phan-Everson T, Li S, Haremaki T, Metzger JJ, Etoc F, Brivanlou AH
Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects
Development
October 1, 2021
148 (19) :dev199513
148 (19) :dev199513
PMID: 34608934
PMCID: 8513611
DOI: 10.1242/dev.199513
Gusella JF, Lee JM, MacDonald ME
Huntington's disease: Nearly four decades of human molecular genetics
Hum Mol Genet
October 1, 2021
30 (20) :R254-R263
30 (20) :R254-R263
PMID: 34169318
PMCID: 8490011
DOI: 10.1093/hmg/ddab170
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
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
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
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
Kinnunen KM, Schwarz AJ, Turner EC, Pustina D, Gantman EC, Gordon MF, Joules R, Mullin AP, Scahill RI, Georgiou-Karistianis N, Huntington’s Disease Regulatory Science Consortium (HD-RSC)
Volumetric MRI-based biomarkers in Huntington's disease: An evidentiary review
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
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
: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
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
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
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
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
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
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
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
118 (30) :e2014610118
PMID: 34301881
Raj A, Powell F
Network model of pathology spread recapitulates neurodegeneration and selective vulnerability in Huntington's disease
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
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
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
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
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
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
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
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
10 (2) :239-257
PMID: 33998547
PMCID: 8293646
DOI: 10.3233/JHD-200465
Rivetti di Val Cervo P, Besusso D, Conforti P, Cattaneo E
hiPSCs for predictive modelling of neurodegenerative diseases: dreaming the possible
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
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
Deng Y, Wang H, Joni M, Sekhri R, Reiner A
Progression of basal ganglia pathology in heterozygous Q175 knock-in Huntington's disease mice
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