Scientific Publications

Listed here are over 800 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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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
Neurology
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
Neuron
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
Elife
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
Didiot MC, Hall LM, Coles AH, Haraszti RA, Godinho BM, Chase K, Sapp E, Ly S, Alterman JF, Hassler MR, Echeverria D, Raj L, Morrissey DV, DiFiglia M, Aronin N, Khvorova A
Exosome-mediated delivery of hydrophobically modified siRNA for huntingtin mRNA silencing
Mol Ther
October 1, 2016
24 (10) :1836-1847
PMID: 27506293
PMCID: 5112038
Sawiak SJ, Wood NI, Morton AJ
Similar progression of morphological and metabolic phenotype in R6/2 mice with different CAG repeats revealed by in vivo magnetic resonance imaging and spectroscopy
J Huntingtons Dis
October 1, 2016
5 (3) :271-283
PMID: 27662335
Keeler AM, Sapp E, Chase K, Sottosanti E, Danielson E, Pfister E, Stoica L, DiFiglia M, Aronin N, Sena-Esteves M
Cellular analysis of silencing the Huntington's disease gene using AAV9 mediated delivery of artificial micro RNA into the Striatum of Q140/Q140 mice
J Huntingtons Dis
October 1, 2016
5 (3) :239-248
PMID: 27689620
Ciarochi JA, Calhoun VD, Lourens S, Long JD, Johnson HJ, Bockholt HJ, Liu J, Plis SM, Paulsen JS, Turner JA, PREDICT-HD Investigators and Coordinators of the Huntington Study Group
Patterns of co-occurring gray matter concentration loss across the Huntington disease prodrome
Front Neurol
September 21, 2016
7 (147)
PMID: 27708610
PMCID: 5030293
Verani M, Bustamante M, Martufi P, Daldin M, Cariulo C, Azzollini L, Fodale V, Puglisi F, Weiss A, Macdonald D, Petricca L, Caricasole A
Conformational modulation mediated by polyglutamine expansion in CAG repeat expansion disease-associated proteins
Biochem Biophys Res Commun
September 16, 2016
478 (2) :949-55
PMID: 27520369
Naseri NN, Bonica J, Xu H, Park LC, Arjomand J, Chen Z, Gibson GE
Novel metabolic abnormalities in the tricarboxylic acid cycle in peripheral cells from Huntington's disease patients
PLoS One
September 9, 2016
11 (9) :e0160384
PMID: 27611087
PMCID: PMC5017661
Ruggeri FS, Vieweg S, Cendrowska U, Longo G, Chiki A, Lashuel HA, Dietler G
Nanoscale studies link amyloid maturity with polyglutamine diseases onset
Sci Rep
August 8, 2016
6 :31155
PMID: 27499269
PMCID: PMC4976327
Warner JH, Sampaio C
Modeling variability in the progression of Huntington`s disease a novel modeling approach applied to structural imaging markers from TRACK-HD
CPT Pharmacometrics Syst Pharmacol
August 2, 2016
5 (8) :437-45
PMID: 27481337
PMCID: PMC4999607
Beaumont V, Mrzljak L, Dijkman U, Freije R, Heins M, Rassoulpour A, Tombaugh G, Gelman S, Bradaia A, Steidl E, Gleyzes M, Heikkinen T, Lehtimaki K, Puolivali J, Kontkanen O, Javier RM, Neagoe I, Deisemann H, Winkler D, Ebneth A, Khetarpal V, Toledo-Sherman L, Dominguez C, Park LC, Munoz-Sanjuan I
The novel KMO inhibitor CHDI-340246 leads to a restoration of electrophysiological alterations in mouse models of Huntington`s disease
Exp Neurol
August 1, 2016
282 :99-118
PMID: 27163548
Cockerham R, Liu S, Cachope R, Kiyokage E, Cheer JF, Shipley MT, Puche AC
Subsecond regulation of synaptically released dopamine by COMT in the olfactory bulb
J Neurosci
July 20, 2016
36 (29) :7779-85
PMID: 27445153
PMCID: PMC4951580
Alexandrov V, Brunner D, Menalled LB, Kudwa A, Watson-Johnson J, Mazzella M, Russell I, Ruiz MC, Torello J, Sabath E, Sanchez A, Gomez M, Filipov I, Cox K, Kwan M, Ghavami A, Ramboz S, Lager B, Wheeler VC, Aaronson J, Rosinski J, Gusella JF, MacDonald ME, Howland D, Kwak S
Large-scale phenome analysis defines a behavioral signature for Huntington`s disease genotype in mice
Nat Biotechnol
July 4, 2016
34 (8) :838-44
PMID: 27376585
Horvath S, Langfelder P, Kwak S, Aaronson J, Rosinski J, Vogt TF, Eszes M, Faull RL, Curtis MA, Waldvogel HJ, Choi OW, Tung S, Vinters HV, Coppola G, Yang XW
Huntington`s disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels
Aging (Albany NY)
July 1, 2016
8 (7) :1485-512
PMID: 27479945
Labuschagne I, Cassidy AM, Scahill RI, Johnson EB, Rees E, O’Regan A, Queller S, Frost C, Leavitt BR, Dürr A, Roos R, Owen G, Borowsky B, Tabrizi SJ, Stout JC, TRACK-HD Investigators
Visuospatial processing deficits linked to posterior brain regions in premanifest and early stage Huntington's disease
J Int Neuropsychol Soc
July 1, 2016
22 (6) :595-608
PMID: 27211109
Frich JC, Rae D, Roxburgh R, Miedzybrodzka ZH, Edmondson M, Pope EB, Goodman L, Haddad MS, Giuliano J, Nelson EC, Guttman M, Nance M
Health care delivery practices in Huntington`s disease specialty clinics: an international survey
J Huntingtons Dis
June 27, 2016
5 (2) :207-13
PMID: 27372053
Landwehrmeyer GB, Fitzer-Attas CJ, Giuliano JD, Gonçalves N, Anderson KE, Cardoso F, Ferreira JJ, Mestre TA, Stout JC, Sampaio C
Data analytics from Enroll-HD, a global clinical research platform for Huntington's disease
Mov Disord Clin Pract
June 22, 2016
4 (2) :212-224
PMID: 30363395
PMCID: PMC6174428
Hintiryan H, Foster NN, Bowman I, Bay M, Song MY, Gou L, Yamashita S, Bienkowski MS, Zingg B, Zhu M, Yang XW, Shih JC, Toga AW, Dong HW
The mouse cortico-striatal projectome
Nat Neurosci
June 20, 2016
19 (8) :1100-14
PMID: 27322419
PMCID: 5564682
Mestre TA, van Duijn E, Davis AM, Bachoud-Levi AC, Busse M, Anderson KE, Ferreira JJ, Mahlknecht P, Tumas V, Sampaio C, Goetz CG, Cubo E, Stebbins GT, Martinez-Martin P, Members of the MDS Committee on Rating Scales Development
Rating scales for behavioral symptoms in Huntington`s disease: Critique and recommendations
Mov Disord
June 14, 2016
31 (10) :1466-1478
PMID: 27296904
Vieweg S, Ansaloni A, Wang ZM, Warner JB, Lashuel HA
An intein-based strategy for the production of tag-free Huntingtin Exon 1 proteins enables new insights into the polyglutamine dependence of Httex1 aggregation and fibril formation
J Biol Chem
June 3, 2016
291 (23) :12074-86
PMID: 27002149
PMCID: PMC4933259
Schramke S, Schuldenzucker V, Schubert R, Frank F, Wirsig M, Ott S, Motlik J, Fels M, Kemper N, Holzner E, Reilmann R
Behavioral phenotyping of minipigs transgenic for the Huntington gene
J Neurosci Methods
May 30, 2016
265 :34-45
PMID: 26688470
Schubert R, Frank F, Nagelmann N, Liebsch L, Schuldenzucker V, Schramke S, Wirsig M, Johnson H, Kim EY, Ott S, Holzner E, Demokritov SO, Motlik J, Faber C, Reilmann R
Neuroimaging of a minipig model of Huntington`s disease: Feasibility of volumetric, diffusion-weighted and spectroscopic assessments
J Neurosci Methods
May 30, 2016
265 :46-55
PMID: 26658298
Baker CR, Dominguez DJF, Stout JC, Gabery S, Churchyard A, Chua P, Egan GF, Petersen A, Georgiou-Karistianis N, Poudel GR
Subjective sleep problems in Huntington`s disease: A pilot investigation of the relationship to brain structure, neurocognitive, and neuropsychiatric function
J Neurol Sci
May 15, 2016
364 :148-53
PMID: 27084236
Ochaba J, Monteys AM, O`Rourke JG, Reidling JC, Steffan JS, Davidson BL, Thompson LM
PIAS1 regulates mutant Huntingtin accumulation and Huntington`s disease-associated phenotypes in vivo
Neuron
May 4, 2016
90 (3) :507-20
PMID: 27146268
PMCID: PMC4942306
Zhang N, Bailus BJ, Ring KL, Ellerby LM
iPSC-based drug screening for Huntington's disease
Brain Res
May 1, 2016
1638 :42-56
PMID: 26428226
PMCID: PMC4814369
Choudhury SR, Harris AF, Cabral DJ, Keeler AM, Sapp E, Ferreira JS, Gray-Edwards HL, Johnson JA, Johnson AK, Su Q, Stoica L, DiFiglia M, Aronin N, Martin DR, Gao G, Sena-Esteves M
Widespread central nervous system gene transfer and silencing after systemic delivery of novel AAV-AS vector
Mol Ther
April 29, 2016
24 (4) :726-35
PMID: 26708003
PMCID: PMC4886933
Kumar A, Zhang J, Tallaksen-Greene S, Crowley MR, Crossman DK, Morton AJ, Van Groen T, Kadish I, Albin RL, Lesort M, Detloff PJ
Allelic series of Huntington`s disease knock-in mice reveals expression discorrelates
Hum Mol Genet
April 15, 2016
25 (8) :1619-36
PMID: 26908599
PMCID: PMC4805312