Listed here are over 900 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
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
Lunven M, Hamet Bagnou J, Youssov K, Gabadinho A, Fliss R, Montillot J, Audureau E, Bapst B, Morgado G, Reilmann R, Schubert R, Busse M, Craufurd D, Massart R, Rosser A, Bachoud-Lévi AC
Cognitive decline in Huntington's disease in the Digitalized Arithmetic Task (DAT)
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
Rodrigues FB, Byrne LM, Lowe AJ, Tortelli R, Heins M, Flik G, Johnson EB, De Vita E, Scahill RI, Giorgini F, Wild EJ
Kynurenine pathway metabolites in cerebrospinal fluid and blood as potential biomarkers in 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
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
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
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
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
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
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
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
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
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
Khaled HG, Feng H, Hu X, Sun X, Zheng W, Li PP, Rudnicki DD, Ye W, Chen YC, Southall N, Marugan J, Ross CA, Ferrer M, Henderson MJ, Margolis RL
A high-throughput screening to identify small molecules that suppress huntingtin promoter activity or activate huntingtin-antisense promoter activity
Stott AJ, Maillard MC, Beaumont V, Allcock D, Aziz O, Borchers AH, Blackaby W, Breccia P, Creighton-Gutteridge G, Haughan AF, Jarvis RE, Luckhurst CA, Matthews KL, McAllister G, Pollack S, Saville-Stones E, Van de Poël AJ, Vater HD, Vann J, Williams R, Yates D, Muñoz-Sanjuán I, Dominguez C
Evaluation of 5-(Trifluoromethyl)-1,2,4-oxadiazole-based class IIa HDAC inhibitors for Huntington's disease
Johnson EB, Parker CS, Scahill RI, Gregory S, Papoutsi M, Zeun P, Osborne-Crowley K, Lowe J, Nair A, Estevez-Fraga C, Fayer K, Rees G, Zhang H, Tabrizi SJ, HD-YAS Investigators
Altered iron and myelin in premanifest Huntington's disease more than 20 years before clinical onset: Evidence from the cross-sectional HD Young Adult Study
Eshraghi M, Karunadharma PP, Blin J, Shahani N, Ricci EP, Michel A, Urban NT, Galli N, Sharma M, Ramírez-Jarquín UN, Florescu K, Hernandez J, Subramaniam S
Mutant huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease
Megret L, Gris B, Sasidharan Nair S, Cevost J, Wertz M, Aaronson J, Rosinski J, Vogt TF, Wilkinson H, Heiman M, Neri C
Shape deformation analysis reveals the temporal dynamics of cell-type-specific homeostatic and pathogenic responses to mutant huntingtin
Cachope R, Pereda AE
Regulatory roles of metabotropic glutamate receptors on synaptic communication mediated by gap junctions
Vicente E, Ruiz de Sabando A, García F, Gastón I, Ardanaz E, Ramos-Arroyo MA
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain
Ou ZA, Byrne LM, Rodrigues FB, Tortelli R, Johnson EB, Foiani MS, Arridge M, De Vita E, Scahill RI, Heslegrave A, Zetterberg H, Wild EJ
Brain-derived neurotrophic factor in cerebrospinal fluid and plasma is not a biomarker for Huntington's disease
Wheeler VC, Dion V
Modifiers of CAG/CTG repeat instability: Insights from mammalian models