Scientific Publications

Listed here are over 600 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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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
Rivetti di Val Cervo P, Besusso D, Conforti P, Cattaneo E
hiPSCs for predictive modelling of neurodegenerative diseases: dreaming the possible
Nat Rev Neurol
March 3, 2021
:1–12
PMID: 33658662
PMCID: 7928200
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
Elife
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
Neuroscience
February 21, 2021
456 :85-94
PMID: 32619474
PMCID: 7805574
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
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
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
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
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
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
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
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
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
December 1, 2020
49 :102016
PMID: 33039807
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
December 1, 2020
29 (12) :3419-3439
PMID: 32813263
PMCID: 7686156
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
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
November 18, 2020
PMID: 33500176
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
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