Scientific Publications

Listed here are over 500 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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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
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
January 13, 2021
83 :56-62
PMID: 33476879
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
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
January 11, 2021
:ddaa283
PMID: 33432339
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
Chembiochem
January 5, 2021
22 (1) :217-231
PMID: 32805086
Naze S, Proix T, Atasoy S, Kozloski JR
Robustness of connectome harmonics to local gray matter and long-range white matter connectivity changes
Neuroimage
January 1, 2021
224 :117364
PMID: 32947015
Heikkinen T, Bragge T, Bhattarai N, Parkkari T, Puoliväli J, Kontkanen O, Sweeney P, Park LC, Munoz-Sanjuan I
Rapid and robust patterns of spontaneous locomotor deficits in mouse models of Huntington's disease
PLoS One
December 28, 2020
15 (12) :e0243052
PMID: 33370315
Yu X, Nagai J, Marti-Solano M, Soto JS, Coppola G, Babu MM, Khakh BS
Context-specific striatal astrocyte molecular responses are phenotypically exploitable
Neuron
December 23, 2020
108 (6) :1146-1162
PMID: 33086039
Rocha NP, Cleary C, Colpo GD, Furr Stimming E, Teixeira AL
Peripheral levels of renin-angiotensin system components are associated with cognitive performance in Huntington's disease
Front Neurosci
December 18, 2020
14 :594945
PMID: 33390882
PMCID: 7775387
Fodale V, Pintauro R, Daldin M, Altobelli R, Spiezia MC, Bisbocci M, Macdonald D, Bresciani A
Analysis of mutant and total huntingtin expression in Huntington's disease murine models
Sci Rep
December 17, 2020
10 (1) :22137
PMID: 33335120
PMCID: 7746729
Rodrigues FB, Byrne LM, Tortelli R, Johnson EB, Wijeratne PA, Arridge M, De Vita E, Ghazaleh N, Houghton R, Furby H, Alexander DC, Tabrizi SJ, Schobel S, Scahill RI, Heslegrave A, Zetterberg H, Wild EJ
Mutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington's disease
Sci Transl Med
December 16, 2020
12 (574) :eabc2888
PMID: 33328328
Morigaki R, Lee JH, Yoshida T, Wüthrich C, Hu D, Crittenden JR, Friedman A, Kubota Y, Graybiel AM
Spatiotemporal up-regulation of mu opioid receptor 1 in striatum of mouse model of Huntington's disease differentially affecting caudal and striosomal regions
Front Neuroanat
December 10, 2020
14 :608060
PMID: 33362481
PMCID: 7758501
Voisin J, Farina F, Naphade S, Fontaine M, Tshilenge KT, Galicia Aguirre C, Lopez-Ramirez A, Dancourt J, Ginisty A, Sasidharan Nair S, Lakshika Madushani K, Zhang N, Lejeune FX, Verny M, Campisi J, Ellerby LM, Neri C
FOXO3 targets are reprogrammed as Huntington's disease neural cells and striatal neurons face senescence with p16INK4a increase
Aging Cell
November 23, 2020
19 (11) :e13226
PMID: 33156570
PMCID: 7681055
Cepeda C, Levine MS
Synaptic dysfunction in Huntington's disease: Lessons from genetic animal models
Neuroscientist
November 16, 2020
PMID: 33198566
Brownstein MJ, Simon NG, Long JD, Yankey J, Maibach HT, Cudkowicz M, Coffey C, Conwit RA, Lungu C, Anderson KE, Hersch SM, Ecklund DJ, Damiano EM, Itzkowitz DE, Lu S, Chase MK, Shefner JM, McGarry A, Thornell B, Gladden C, Costigan M, O’Suilleabhain P, Marshall FJ, Chesire AM, Deritis P, Adams JL, Hedera P, Lowen K, Rosas HD, Hiller AL, Quinn J, Keith K, Duker AP, Gruenwald C, Molloy A, Jacob C, …Drazinic C
Safety and tolerability of SRX246, a vasopressin 1a antagonist, in irritable Huntington's disease patients-a randomized phase 2 clinical trial
J Clin Med
November 16, 2020
9 (11) :3682
PMID: 33207828
PMCID: 7696926
Friedman A, Hueske E, Drammis SM, Toro Arana SE, Nelson ED, Carter CW, Delcasso S, Rodriguez RX, Lutwak H, DiMarco KS, Zhang Q, Rakocevic LI, Hu D, Xiong JK, Zhao J, Gibb LG, Yoshida T, Siciliano CA, Diefenbach TJ, Ramakrishnan C, Deisseroth K, Graybiel AM
Striosomes mediate value-based learning vulnerable in age and a Huntington's disease model
Cell
November 12, 2020
183 (4) :918-934
PMID: 33113354
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
November 11, 2020
PMID: 33179158
Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out
Hum Mol Genet
November 4, 2020
29 (18) :3044-3053
PMID: 32876667
PMCID: 7645713
Colarusso S, De Simone D, Frattarelli T, Andreini M, Cerretani M, Missineo A, Moretti D, Tambone S, Kempf G, Augustin M, Steinbacher S, Munoz-Sanjuan I, Park L, Summa V, Tomei L, Bresciani A, Dominguez C, Toledo-Sherman L, Bianchi E
Optimization of linear and cyclic peptide inhibitors of KEAP1-NRF2 protein-protein interaction
Bioorg Med Chem
November 1, 2020
28 (21) :115738
PMID: 33065433
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
October 21, 2020
PMID: 33096251
Mitchell CT, Krier I, Arjomand J, Borowsky B, Tabrizi SJ, Leavitt BR, TRACK-HD Investigators, Luthi-Carter R
Longitudinal expression changes are weak correlates of disease progression in Huntington's disease
Brain Commun
October 17, 2020
2 (2) :fcaa172
PMID: 33305259
PMCID: 7713990
van der Plas E, Schultz J, Nopoulos P
The neurodevelopmental hypothesis of Huntington's disease
J Huntingtons Dis
October 8, 2020
9 (3) :217-229
PMID: 32925079
Howland D, Ellederova Z, Aronin N, Fernau D, Gallagher J, Taylor A, Hennebold J, Weiss A, Gray-Edwards H, McBride J
Large animal models of Huntington's disease: What we have learned and where we need to go next
J Huntingtons Dis
October 8, 2020
9 (3) :201-216
PMID: 32925082
Tereshchenko A, van der Plas E, Mathews KD, Epping E, Conrad AL, Langbehn DR, Nopoulos P
Developmental trajectory of height, weight, and BMI in children and adolescents at risk for Huntington's disease: Effect of mHTT on growth
J Huntingtons Dis
October 8, 2020
9 (3) :245-251
PMID: 32894247
Besusso D, Cossu A, Mohamed A, Cernigoj M, Codega P, Galimberti M, Campus I, Conforti P, Cattaneo E
A CRISPR-strategy for the generation of a detectable fluorescent hESC reporter line (WAe009-A-37) for the subpallial determinant GSX2
Stem Cell Res
October 1, 2020
49 :102016
PMID: 33039807
Lu AT, Narayan P, Grant MJ, Langfelder P, Wang N, Kwak S, Wilkinson H, Chen RZ, Chen J, Simon Bawden C, Rudiger SR, Ciosi M, Chatzi A, Maxwell A, Hore TA, Aaronson J, Rosinski J, Preiss A, Vogt TF, Coppola G, Monckton D, Snell RG, William Yang X, Horvath S
DNA methylation study of Huntington's disease and motor progression in patients and in animal models
Nat Commun
September 10, 2020
11 (1) :4529
PMID: 32913184
Lee H, Fenster RJ, Pineda SS, Gibbs WS, Mohammadi S, Davila-Velderrain J, Garcia FJ, Therrien M, Novis HS, Gao F, Wilkinson H, Vogt T, Kellis M, LaVoie MJ, Heiman M
Cell type-specific transcriptomics reveals that mutant huntingtin leads to mitochondrial RNA release and neuronal innate immune activation
Neuron
September 9, 2020
107 (5) :891-908.e8
PMID: 32681824
PMCID: 7486278
Davis SM, Sousa J, Vangjeli L, Hassler MR, Echeverria D, Knox E, Turanov AA, Alterman JF, Khvorova A
2'-O-Methyl at 20-mer guide strand 3' termini may negatively affect target silencing activity of fully chemically modified siRNA
Mol Ther Nucleic Acids
September 4, 2020
21 :266-277
PMID: 32610253
PMCID: 7327867
Jung T, Shin B, Tamo G, Kim H, Vijayvargia R, Leitner A, Marcaida MJ, Astorga-Wells J, Jung R, Aebersold R, Peraro MD, Hebert H, Seong IS, Song JJ
The polyglutamine expansion at the N-terminal of huntingtin protein modulates the dynamic configuration and phosphorylation of the C-terminal HEAT domain
Structure
September 1, 2020
28 (9) :1035-1050.e8
PMID: 32668197
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease
Arch Clin Neuropsychol
September 1, 2020
35 (6) :671-682
PMID: 32407458
Wilton DK, Stevens B
The contribution of glial cells to Huntington's disease pathogenesis
Neurobiol Dis
September 1, 2020
143 :104963
PMID: 32593752
PMCID: 7433320
Carlozzi NE, Boileau NR, Roché MW, Ready RE, Perlmutter JS, Chou KL, Barton SK, McCormack MK, Stout JC, Cella D, Miner JA, Paulsen JS
Responsiveness to change over time and test-retest reliability of the PROMIS and Neuro-QoL mental health measures in persons with Huntington disease (HD)
Qual Life Res
August 19, 2020
PMID: 32813263
Lowe AJ, Sjödin S, Rodrigues FB, Byrne LM, Blennow K, Tortelli R, Zetterberg H, Wild EJ
Cerebrospinal fluid endo-lysosomal proteins as potential biomarkers for Huntington's disease
PLoS One
August 17, 2020
15 (8) :e0233820
PMID: 32804976
Liu L, Prime ME, Lee MR, Khetarpal V, Brown CJ, Johnson PD, Miranda-Azpiazu P, Chen X, Clark-Frew D, Coe S, Davis R, Dickie A, Ebneth A, Esposito S, Gadouleau E, Gai X, Galan S, Green S, Greenaway C, Giles P, Halldin C, Hayes S, Herbst T, Herrmann F, Heßmann M, Jia Z, Kiselyov A, Kotey A, Krulle T, Mangette JE, Marston RW, Menta S, Mills MR, Monteagudo E, Nag S, Nibbio M, Orsatti L, Schaertl S, …Dominguez C
Imaging mutant Huntingtin aggregates: development of a potential PET ligand
J Med Chem
August 13, 2020
63 (15) :8608-8633
PMID: 32662649
Hegde RN, Chiki A, Petricca L, Martufi P, Arbez N, Mouchiroud L, Auwerx J, Landles C, Bates GP, Singh-Bains MK, Dragunow M, Curtis MA, Faull RL, Ross CA, Caricasole A, Lashuel HA
TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models
EMBO J
August 5, 2020
:e104671
PMID: 32757223
Landles C, Milton RE, Ali N, Flomen R, Flower M, Schindler F, Gomez-Paredes C, Bondulich MK, Osborne GF, Goodwin D, Salsbury G, Benn CL, Sathasivam K, Smith EJ, Tabrizi SJ, Wanker EE, Bates GP
Subcellular localization and formation of huntingtin aggregates correlates with symptom onset and progression in a Huntington's disease model
Brain Commun
August 3, 2020
2 (2) :fcaa066
PMID: 32954323
PMCID: 7425396
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
Hum Mol Genet
August 1, 2020
29 (15) :2551-2567
PMID: 32761094
PMCID: 7471505
Sun W, Zhou D, Warner JH, Langbehn DR, Hochhaus G, Wang Y
Huntington's disease progression: A population modeling approach to characterization using clinical rating scales
J Clin Pharmacol
August 1, 2020
60 (8) :1051-1060
PMID: 32416008
Bertoglio D, Verhaeghe J, Korat Š, Miranda A, Wyffels L, Stroobants S, Mrzljak L, Dominguez C, Liu L, Skinbjerg M, Munoz-Sanjuan I, Staelens S
In vitro and In vivo assessment of suitable reference region and kinetic modelling for the mGluR1 radioligand [(11)C] ITDM in mice
Mol Imaging Biol
August 1, 2020
22 (4) :854-863
PMID: 31792838
PMCID: 7343737
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
July 23, 2020
PMID: 32702147