CHDI
Listed here are over 750 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
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
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
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
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
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
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
Rivetti di Val Cervo P, Besusso D, Conforti P, Cattaneo E
hiPSCs for predictive modelling of neurodegenerative diseases: dreaming the possible
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
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
Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM
Huntington's disease pathogenesis: Two sequential components
Ciosi M, Cumming SA, Chatzi A, Larson E, Tottey W, Lomeikaite V, Hamilton G, Wheeler VC, Pinto RM, Kwak S, Morton AJ, Monckton DG
Approaches to sequence the HTT CAG repeat expansion and quantify repeat length variation
Monckton DG
The contribution of somatic expansion of the CAG repeat to symptomatic development in Huntington's disease: A historical perspective
Iyer RR, Pluciennik A
DNA mismatch repair and its role in Huntington's disease
Tortelli R, Rodrigues FB, Wild EJ
The use of wearable/portable digital sensors in Huntington's disease: A systematic review
Parkinsonism Relat Disord
February 2, 2021
83 :93-104
83 :93-104
PMID: 33493786
MacLeod R, Metcalfe A, Ferrer-Duch M
A family systems approach to genetic counseling: Development of narrative interventions
Monje MHG, Fuller RLM, Cubo E, Mestre TA, Tan AH, Stout JC, Ali S, Chahine L, Dujardin K, Fitzer-Attas CJ, Youn J, Bloem BR, Horak FB, Merola A, Reilmann R, Paul SS, Dorsey ER, Maetzler W, Espay AJ, Martinez-Martin P, Stebbins GT, Sánchez-Ferro Á, MDS Rating Scales Program Electronic Development Committee and the MDS Technology Taskforce
Toward e-Scales: Digital administration of the International Parkinson and Movement Disorder Society rating scales
Mov Disord Clin Pract
February 1, 2021
8 (2) :208-214
8 (2) :208-214
PMID: 33553489
PMCID: 7853197
DOI: 10.1002/mdc3.13135
Griffin BA, Booth MS, Busse M, Wild EJ, Setodji C, Warner JH, Sampaio C, Mohan A
Estimating the causal effects of modifiable, non-genetic factors on Huntington disease progression using propensity score weighting
Parkinsonism Relat Disord
February 1, 2021
83 :56-62
83 :56-62
PMID: 33476879
Church VA, Cates K, Capano L, Aryal S, Kim WK, Yoo AS
Generation of human neurons by microRNA-mediated direct conversion of dermal fibroblasts
Morozko EL, Smith-Geater C, Monteys AM, Pradhan S, Lim RG, Langfelder P, Kachemov M, Hill A, Stocksdale JT, Cullis PR, Wu J, Ochaba J, Miramontes R, Chakraborty A, Hazra TK, Lau A, St-Cyr S, Orellana I, Kopan L, Wang KQ, Yeung S, Leavitt BR, Reidling JC, Yang XW, Steffan JS, Davidson BL, Sarkar PS, Thompson LM
PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington's disease
Proc Natl Acad Sci USA
January 21, 2021
118 (4) :e2021836118
118 (4) :e2021836118
PMID: 33468657
Alcalá-Vida R, Seguin J, Lotz C, Molitor AM, Irastorza-Azcarate I, Awada A, Karasu N, Bombardier A, Cosquer B, Skarmeta JLG, Cassel JC, Boutillier AL, Sexton T, Merienne K
Age-related and disease locus-specific mechanisms contribute to early remodelling of chromatin structure in Huntington's disease mice
Chiki A, Ricci J, Hegde R, Abriata LA, Reif A, Boudeffa D, Lashuel HA
Site-specific phosphorylation of Huntingtin exon 1 recombinant proteins enabled by the discovery of novel kinases
Landles C, Milton RE, Jean A, McLarnon S, McAteer SJ, Taxy BA, Osborne GF, Zhang C, Duan W, Howland D, Bates GP
Development of novel bioassays to detect soluble and aggregated Huntingtin proteins on three technology platforms
Mullin AP, Corey D, Turner EC, Liwski R, Olson D, Burton J, Sivakumaran S, Hudson LD, Romero K, Stephenson DT, Larkindale J
Standardized data structures in rare diseases: CDISC user guides for Duchenne Muscular Dystrophy and Huntington's disease
Clin Transl Sci
January 1, 2021
14 (1) :214-221
14 (1) :214-221
PMID: 32702147
PMCID: 7877853
DOI: 10.1111/cts.12845
Naze S, Proix T, Atasoy S, Kozloski JR
Robustness of connectome harmonics to local gray matter and long-range white matter connectivity changes
Moretti D, Tambone S, Cerretani M, Fezzardi P, Missineo A, Sherman LT, Munoz-Sajuan I, Harper S, Dominquez C, Pacifici R, Tomei L, Park L, Bresciani A
NRF2 activation by reversible KEAP1 binding induces the antioxidant response in primary neurons and astrocytes of a Huntington's disease mouse model
Free Radic Biol Med
January 1, 2021
162 :243-254
162 :243-254
PMID: 33096251
Fuller RLM, Sánchez-Ferro Á, Goetz CG, Martinez-Martin P, Stebbins GT
In support of electronic versions of Movement Disorder Society rating scales