CHDI
Listed here are over 975 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.
Publication Search
Title
Journal
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
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
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
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
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
Yu X, Nagai J, Marti-Solano M, Soto JS, Coppola G, Babu MM, Khakh BS
Context-specific striatal astrocyte molecular responses are phenotypically exploitable
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
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
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
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
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
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)
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
Cepeda C, Levine MS
Synaptic dysfunction in Huntington's disease: Lessons from genetic animal models
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
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
Rodrigues FB, Duarte GS, Marques RE, Castelão M, Ferreira J, Sampaio C, Moore AP, Costa J
Botulinum toxin type A therapy for cervical dystonia
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
29 (18) :3044-3053
PMID: 32876667
PMCID: 7645713
DOI: 10.1093/hmg/ddaa196
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
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
van der Plas E, Schultz J, Nopoulos P
The neurodevelopmental hypothesis of Huntington's disease
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
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
Chatterjee P, Jakimo N, Lee J, Amrani N, Rodríguez T, Koseki SRT, Tysinger E, Qing R, Hao S, Sontheimer EJ, Jacobson J
An engineered ScCas9 with broad PAM range and high specificity and activity
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
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
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
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
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease