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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Dominguez D JF, Poudel G, Stout JC, Gray M, Chua P, Borowsky B, Egan GF, Georgiou-Karistianis N
Longitudinal changes in the fronto-striatal network are associated with executive dysfunction and behavioral dysregulation in Huntington's disease : 30 months IMAGE-HD data
July 1, 2017
92 :139-149
PMID: 28482181
Nikan M, Osborn MF, Coles AH, Biscans A, Godinho BMDC, Haraszti RA, Sapp E, Echeverria D, DiFiglia M, Aronin N, Khvorova A
Synthesis and evaluation of parenchymal retention and efficacy of a metabolically stable O-Phosphocholine-N-docosahexaenoyl-l-serine siRNA conjugate in mouse brain
Bioconjug Chem
June 21, 2017
28 (6) :1758-1766
PMID: 28462988
Teka WW, Hamade KC, Barnett WH, Kim T, Markin SN, Rybak IA, Molkov YI
From the motor cortex to the movement and back again
PLoS One
June 20, 2017
12 (6) :e0179288
PMID: 28632736
PMCID: PMC5478113
Byrne LM, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RAC, Scahill RI, Tabrizi SJ, Zetterberg H, Langbehn D, Wild EJ
Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis
Lancet Neurol
June 7, 2017
17 (30124-2) :S1474-4422
PMID: 28601473
Quinti L, Dayalan Naidu S, Träger U, Chen X, Kegel-Gleason K Llères D, Connolly C, Chopra V, Low C, Moniot S, Sapp E, Tousley AR, Vodicka P, Van Kanegan MJ, Kaltenbach LS, Crawford LA, Fuszard M, Higgins M, Miller JRC, Farmer RE, Potluri V, Samajdar S, Meisel L, Zhang N, Snyder A, Stein R, Hersch SM, Ellerby LM, Weerapana E, Schwarzschild MA, Steegborn C, Leavitt BR, Degterev A, Tabrizi SJ, Lo DC, DiFiglia M, Thompson LM, Dinkova-Kostova AT, Kazantsev AG
KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients
Proc Natl Acad Sci USA
June 6, 2017
114 (23) :E4676-E4685
PMID: 28533375
Park KHJ, Franciosi S, Parrant K, Lu G, Leavitt BR
p35 hemizygosity activates Akt but does not improve motor function in the YAC128 mouse model of Huntington's disease
June 3, 2017
352 :79-87
PMID: 28391013
Farina F, Lambert E, Commeau L, Lejeune FX, Roudier N, Fonte C, Parker JA, Boddaert J, Verny M, Baulieu EE, Neri C
The stress response factor daf-16 FOXO is required for multiple compound families to prolong the function of neurons with Huntington's disease
Sci Rep
June 1, 2017
7 (1) :4014
PMID: 28638078
PMCID: PMC5479833
Cleary JD, Ranum LP
New developments in RAN translation: insights from multiple diseases
Curr Opin Genet Dev
June 1, 2017
44 :125-134
PMID: 28365506
McColgan P, Razi A, Gregory S, Seunarine KK, Durr A, Roos ACR, Leavitt BR, Scahill RI, Clark CA, Langbehn DR, Rees G, Tabrizi SJ, Track On-HD Investigators
Structural and functional brain network correlates of depressive symptoms in premanifest Huntington's disease
Hum Brain Mapp
June 1, 2017
38 (6) :2819-2829
PMID: 28294457
PMCID: PMC5434856
Fazio P, Schain M, Mrzljak L, Amini N, Nag S, Al-Tawil N, Fitzer-Attas CJ, Bronzova J, Landwehrmeyer B, Sampaio C, Halldin C, Varrone A
Patterns of age related changes for phosphodiesterase type-10A in comparison with dopamine D(2/3) receptors and sub-cortical volumes in the human basal ganglia: A PET study with (18)F-MNI-659 and (11)C-raclopride with correction for partial volume effect
May 15, 2017
152 :330-339
PMID: 28254508
Neueder A, Landles C, Ghosh R, Howland D, Myers RH, Faull RLM, Tabrizi SJ, Bates GP
The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients
Sci Rep
May 2, 2017
7 (1) :1307
PMID: 28465506
PMCID: PMC5431000
Chiki A, DeGuire SM, Ruggeri FS, Sanfelice D, Ansaloni A, Wang ZM, Cendrowska U, Burai R, Vieweg S, Pastore A, Dietler G, Lashuel HA
Mutant exon1 Huntingtin aggregation is regulated by T3 phosphorylation-induced structural changes and crosstalk between T3 phosphorylation and acetylation at K6
Angew Chem Int Ed Engl
May 2, 2017
56 (19) :5202-5207
PMID: 28334491
HD iPSC Consortium
Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice
Nat Neurosci
May 1, 2017
20 (5) :648-660
PMID: 28319609
PMCID: PMC5610046
Martín-Ibáñez R, Guardia I, Pardo M, Herranz C, Zietlow R, Vinh NN, Rosser A, Canals JM
Insights in spatio-temporal characterization of human fetal neural stem cells
Exp Neurol
May 1, 2017
291 :20-35
PMID: 28131724
Miller JRC, Pfister EL, Liu W, Andre R, Träger U, Kennington LA, Lo K, Dijkstra S, Macdonald D, Ostroff G, Aronin N, Tabrizi SJ
Allele-selective suppression of mutant Huntingtin in primary human blood cells
Sci Rep
April 24, 2017
7 :46740
PMID: 28436437
PMCID: PMC5402279
Zhang L, Kang H, Vázquez FX, Toledo-Sherman L, Luan B. Zhou R
Molecular mechanism of stabilizing the helical structure of Huntingtin N17 in a micellar environment
J Phys Chem B
April 17, 2017
PMID: 28413881
Gasset-Rosa F, Chillon-Marinas C, Goginashvili A, Atwal RS, Artates JW, Tabet R, Wheeler VC, Bang AG, Cleveland DW, Lagier-Tourenne C
Polyglutamine-expanded huntingtin exacerbates age-related disruption of nuclear integrity and nucleocytoplasmic transport
April 5, 2017
94 (1) :48-57
PMID: 28384474
PMCID: 5479704
Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Papoutsi M, Mills JA, Durr A, Leavitt BR, Roos RAC, Stout JC, Scahill RI, Langbehn DR, Tabrizi SJ, Rees G
Operationalizing compensation over time in neurodegenerative disease
April 1, 2017
140 (4) :1158-1165
PMID: 28334888
PMCID: PMC5382953
Häggkvist J, Tóth M, Tari L, Varnäs K, Svedberg M, Forsberg A, Nag S, Dominguez C, Munoz-Sanjuan I, Bard J, Wityak J, Varrone A, Halldin C, Mrzljak L
Longitudinal small-animal PET imaging of the zQ175 mouse model of Huntington disease shows in vivo changes of molecular targets in the striatum and cerebral cortex
J Nucl Med
April 1, 2017
58 (4) :617-622
PMID: 27856625
Wang JKT, Langfelder P, Horvath S, Palazzolo MJ
Exosomes and homeostatic synaptic plasticity are linked to each other and to Huntington's, Parkinson's, and other neurodegenerative diseases by database-enabled analyses of comprehensively curated datasets
Front Neurosci
March 31, 2017
11 (149)
PMID: 28611571
PMCID: PMC5374209
Kim T, Hamade KC, Todorov D, Barnett WH, Capps RA, Latash EM, Markin SN, Rybak IA, Molkov YI
Reward based motor adaptation mediated by basal ganglia
Front Comput Neurosci
March 31, 2017
11 (19)
PMID: 28408878
PMCID: PMC5374212
Liu JP, Zeitlin SO
Is Huntingtin dispensable in the adult brain?
J Huntingtons Dis
March 27, 2017
6 (1) :43847
PMID: 28339401
PMCID: PMC5389021
Hensman Moss DJ, Flower MD, Lo KK, Miller JR, van Ommen GB, ‘t Hoen PA, Stone TC, Guinee A, Langbehn DR, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease
Sci Rep
March 21, 2017
7 :44849
PMID: 28322270
PMCID: PMC5359597
Southwell AL, Skotte NH, Villanueva EB, Østergaard ME, Gu X, Kordasiewicz HB, Kay C, Cheung D, Xie Y, Waltl S, Dal Cengio L, Findlay-Black H, Doty CN, Petoukhov E, Iworima D, Slama R, Ooi J, Pouladi MA, Yang XW, Swayze EE, Seth PP, Hayden MR
A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles
Hum Mol Genet
March 15, 2017
26 (6) :1115-1132
PMID: 28104789
Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, Wang K, Geman D, Carroll JB, MacDonald ME, Carlson G, Wheeler VC, Price ND, Hood LE
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds
Hum Mol Genet
March 1, 2017
26 (5) :913-922
PMID: 28334820
Schultz JL, Kamholz JA, Moser DJ, Feely SM, Paulsen JS, Nopoulos PC
Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database
February 28, 2017
88 (9) :909-915
PMID: 28148631
Yu MS, Tanese N
Huntingtin is required for neural but not cardiac/pancreatic progenitor differentiation of mouse embryonic stem cells in vitro
Front Cell Neurosci
February 21, 2017
11 (33)
PMID: 28270748
PMCID: PMC5318384
Long JD, Langbehn DR, Tabrizi SJ, Landwehrmeyer BG, Paulsen JS, Warner J, Sampaio C
Validation of a prognostic index for Huntington's disease
Mov Disord
February 20, 2017
32 (2) :256-263
PMID: 27892614
PMCID: PMC5318276
Skene DJ, Middleton B, Fraser CK, Pennings JL, Kuchel TR, Rudiger SR, Bawden CS, Morton AJ
Metabolic profiling of presymptomatic Huntington's disease sheep reveals novel biomarkers
Sci Reports
February 17, 2017
7 (43030) :43846
PMID: 28223686
PMCID: PMC5320451
Faedo A, Laporta A, Segnali A, Galimberti M, Besusso D, Cesana E, Belloli S, Moresco RM, Tropiano M, Fucà E, Wild S, Bosio A, Vercelli AE, Biella G, Cattaneo E
Differentiation of human telencephalic progenitor cells into MSNs by inducible expression of Gsx2 and Ebf1
Proc Natl Acad Sci USA
February 14, 2017
114 (7) :E1234-E1242
PMID: 28137879
PMCID: PMC5321017
Shin A, Shin B, Shin JW, Kim KH, Atwal RS, Hope JM, Gillis T, Leszyk JD, Shaffer SA, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS, Lee JM
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels
Hum Mol Genet
February 6, 2017
26 (7) :1258-1267
PMID: 28165127
Shankaran M, Di Paolo E, Leoni V, Caccia C, Ferrari Bardile C, Mohammed H, Di Donato S, Kwak S, Marchionini D, Turner S, Cattaneo E, Valenza M
Early and brain region-specific decrease of de novo cholesterol biosynthesis in Huntington's disease: A cross-validation study in Q175 knock-in mice
Neurobiol Dis
February 1, 2017
98 :66-76
PMID: 27913290
McColgan P, Gregory S, Razi A, Seunarine KK, Gargouri F, Durr A, Roos RA, Leavitt BR, Scahill RI, Clark CA, Tabrizi SJ, Rees G, Track On‐HD Investigators, Coleman A, Decolongon J, Fan M, Petkau T, Jauffret C, Justo D, Lehericy S, Nigaud K, Valabrègue R, Choonderbeek A, Hart EP, Hensman Moss DJ, Crawford H, Johnson E, Papoutsi M, Berna C, Reilmann R, Weber N, Stout J, Labuschagne I, Landwehrmeyer B, Orth M, Johnson H
White matter predicts functional connectivity in premanifest Huntington's disease
Ann Clin Transl Neurol
January 16, 2017
4 (2) :106-118
PMID: 28168210
PMCID: 5288460
Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex
Hum Mol Genet
January 15, 2017
26 (2) :395-406
PMID: 28017939
Lee JK, Ding Y, Conrad AL, Cattaneo E, Epping E, Mathews K, Gonzalez-Alegre P, Cahill L, Magnotta V, Schlaggar BL, Perlmutter JS, Kim RE, Dawson JD, Nopoulos P
Sex-specific effects of the Huntington gene on normal neurodevelopment
J Neurosci Res
January 2, 2017
95 (43832) :398-408
PMID: 27870408
Orth M, Gregory S, Scahill RI, Mayer IS, Minkova L, Klöppel S, Seunarine KK, Boyd L, Borowsky B, Reilmann R, Landwehrmeyer BG, Leavitt BR, Roos RA, Durr A, Rees G, Rothwell JC, Langbehn D, Tabrizi SJ, TRACK-On Investigators
Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease
Hum Brain Mapp
December 31, 2016
37 (12) :4615-4628
PMID: 27477323
Beaumont V, Zhong S, Lin H, Xu W, Bradaia A, Steidl E, Gleyzes M, Wadel K, Buisson B, Padovan-Neto FE, Chakroborty S, Ward KM, Harms JF, Beltran J, Kwan M, Ghavami A, Häggkvist J, Tóth M, Halldin C, Varrone A, Schaab C, Dybowski JN, Elschenbroich S, Lehtimäki K, Heikkinen T, Park L, Rosinski J, Mrzljak L, Lavery D, West AR, Schmidt CJ, Zaleska MM, Munoz-Sanjuan I
Phosphodiesterase 10A inhibition improves cortico-basal ganglia function in Huntington's disease models
December 21, 2016
92 (6) :1220-1237
PMID: 27916455
Atherton JF, McIver EL, Mullen MR, Wokosin DL, Surmeier DJ, Bevan MD
Early dysfunction and progressive degeneration of the subthalamic nucleus in mouse models of Huntington's disease
December 20, 2016
5 :e21616
PMID: 27995895
PMCID: PMC5199195
Rangel-Barajas C, Rebec GV
Dysregulation of corticostriatal connectivity in Huntington's disease: A role for dopamine modulation
J Huntingtons Dis
December 15, 2016
5 (4) :303-331
PMID: 27983564
PMCID: 5181679
Deng YP, Reiner A
Cholinergic interneurons in the Q140 knockin mouse model of Huntington's disease: Reductions in dendritic branching and thalamostriatal input
J Comp Neurol
December 1, 2016
524 (17) :3518-3529
PMID: 27219491
PMCID: PMC5050058