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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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
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
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
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
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
Sci Rep
March 17, 2021
11 (1) :6157
PMID: 33731741
PMCID: 7969751
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
ACS Med Chem Lett
March 11, 2021
12 (3) :380-388
PMID: 33738065
PMCID: 7957923
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
March 8, 2021
65 :103266
PMID: 33706250
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
Nat Commun
March 5, 2021
12 (1) :1461
PMID: 33674575
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
February 23, 2021
10 :e64984
PMID: 33618800
PMCID: 7901871
Cachope R, Pereda AE
Regulatory roles of metabotropic glutamate receptors on synaptic communication mediated by gap junctions
February 21, 2021
456 :85-94
PMID: 32619474
PMCID: 7805574
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
Orphanet J Rare Dis
February 10, 2021
16 (1) :77
PMID: 33568143
PMCID: 7877055
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
Sci Rep
February 10, 2021
11 (1) :3481
PMID: 33568689
Wheeler VC, Dion V
Modifiers of CAG/CTG repeat instability: Insights from mammalian models
J Huntingtons Dis
February 9, 2021
10 (1) :123-148
PMID: 33579861
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
J Huntingtons Dis
February 9, 2021
10 (1) :35-51
PMID: 33579862
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
J Huntingtons Dis
February 9, 2021
10 (1) :53-74
PMID: 33579864
Monckton DG
The contribution of somatic expansion of the CAG repeat to symptomatic development in Huntington's disease: A historical perspective
J Huntingtons Dis
February 9, 2021
10 (1) :7-33
PMID: 33579863
Iyer RR, Pluciennik A
DNA mismatch repair and its role in Huntington's disease
J Huntingtons Dis
February 9, 2021
10 (1) :75-94
PMID: 33579865
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
PMID: 33493786
MacLeod R, Metcalfe A, Ferrer-Duch M
A family systems approach to genetic counseling: Development of narrative interventions
J Genet Couns
February 1, 2021
30 (1) :22-29
PMID: 33438335
McLaren B, Andrews SC, Glikmann-Johnston Y, Mercieca EC, Murray NWG, Loy C, Bellgrove MA, Stout JC
Feasibility and initial validation of 'HD-Mobile', a smartphone application for remote self-administration of performance-based cognitive measures in Huntington's disease
J Neurol
February 1, 2021
268 (2) :590-601
PMID: 32880724
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
PMID: 33553489
PMCID: 7853197
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
PMID: 33476879
PMCID: 7949328
Church VA, Cates K, Capano L, Aryal S, Kim WK, Yoo AS
Generation of human neurons by microRNA-mediated direct conversion of dermal fibroblasts
Methods Mol Biol
January 29, 2021
2239 :77-100
PMID: 33226614
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
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
Nat Commun
January 13, 2021
12 (1) :364
PMID: 33441541
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
January 5, 2021
22 (1) :217-231
PMID: 32805086
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
Brain Commun
January 5, 2021
3 (1) :fcaa231
PMID: 33604571
PMCID: 7878250
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
PMID: 32702147
PMCID: 7877853
Naze S, Proix T, Atasoy S, Kozloski JR
Robustness of connectome harmonics to local gray matter and long-range white matter connectivity changes
January 1, 2021
224 :117364
PMID: 32947015
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
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
Mov Disord
January 1, 2021
36 (1) :270-271
PMID: 33492790