Scientific Publications

Listed here are over 1,045 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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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
Turner LM, Jakabek D, Wilkes FA, Croft RJ, Churchyard A, Walterfang M, Velakoulis D, Looi JC, Georgiou-Karistianis N, Apthorp D
Striatal morphology correlates with frontostriatal electrophysiological motor processing in Huntington's disease: an IMAGE-HD study
Brain Behav
July 27, 2016
6 (12) :e00511
PMID: 28031992
PMCID: 5167007
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
Langfelder P, Cantle JP, Chatzopoulou D, Wang N, Gao F, Al-Ramahi I, Lu XH, Ramos EM, El-Zein K, Zhao Y, Deverasetty S, Tebbe A, Schaab C, Lavery DJ, Howland D, Kwak S, Botas J, Aaronson JS, Rosinski J, Coppola G, Horvath S, Yang XW
Integrated genomics and proteomics define huntingtin CAG length-dependent networks in mice
Nat Neurosci
April 1, 2016
19 (4) :623-33
PMID: 26900923
Baake V, Hart EP, Bos R, Roos RA
Participants at the Leiden site of the REGISTRY Study: a demographic approach
J Huntingtons Dis
March 15, 2016
5 (1) :83-90
PMID: 27003663
Munoz-Sanjuan I
Support communities involved in disease studies
Nature
March 10, 2016
531 (7593) :141
PMID: 26961621
Connor B, Sun Y, von Hieber D, Tang SK, Jones KS, Maucksch C
AAV1/2-mediated BDNF gene therapy in a transgenic rat model of Huntington's disease
Gene Ther
March 1, 2016
23 (3) :283-95
PMID: 26704721
Fisher SP, Schwartz MD, Wurts-Black S, Thomas AM, Chen TM, Miller MA, Palmerston JB, Kilduff TS, Morairty SR
Quantitative electroencephalographic analysis provides an early-stage indicator of disease onset and progression in the zQ175 knock-in mouse model of Huntington's disease
Sleep
February 16, 2016
39 (2) :379-91
PMID: 26446107
PMCID: PMC4712407
Wiecki TV, Antoniades CA, Stevenson A, Kennard C, Borowsky B, Owen G, Leavitt B, Roos R, Durr A, Tabrizi SJ, Frank MJ
A computational cognitive biomarker for early-stage Huntington's disease
PLoS One
February 12, 2016
11 (2) :e0148409
PMID: 26872129
PMCID: PMC4752511
Peng Q, Wu B, Jiang M, Jin J, Hou Z, Zheng J, Zhang J, Duan W
Characterization of behavioral, neuropathological, brain metabolic and key molecular changes in zQ175 knock-in mouse model of Huntington's disease
PLoS One
February 9, 2016
11 (2) :e0148839
PMID: 26859386
PMCID: 4747517
Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM
The Htt CAG-expansion mutation determines age at death but not disease duration in Huntington disease
Am J Hum Genet
February 4, 2016
98 (2) :287-98
PMID: 26849111
PMCID: PMC4746370
Nambron R, Silajdžić E, Kalliolia E, Ottolenghi C, Hindmarsh P, Hill NR, Costelloe SJ, Martin NG, Positano V, Watt HC, Frost C, Björkqvist M, Warner TT
A metabolic study of Huntington's disease
PLoS One
January 8, 2016
11 (1) :e0146480
PMID: 26744893
PMCID: PMC4706313
Benraiss A, Wang S, Herrlinger S, Li X, Chandler-Militello D, Mauceri J, Burm HB, Toner M, Osipovitch M, Jim Xu Q, Ding F, Wang F, Kang N, Kang J, Curtin PC, Brunner D, Windrem MS, Munoz-Sanjuan I, Nedergaard M, Goldman SA
Human glia can both induce and rescue aspects of disease phenotype in Huntington disease
Nat Commun
January 1, 2016
7 :43843
PMID: 27273432
PMCID: PMC4899632
Culver BP, DeClercq J, Dolgalev I, Yu MS, Ma B, Heguy A, Tanese N
Huntington`s Disease protein Huntingtin associates with its own mRNA
J Huntingtons Dis
January 1, 2016
5 (1) :39-51
PMID: 26891106
PMCID: PMC4927879
Keogh R, Frost C, Owen G, Daniel RM, Langbehn DR, Leavitt B, Durr A, Roos RA, Landwehrmeyer GB, Reilmann R, Borowsky B, Stout J, Craufurd D, Tabrizi SJ
Medication use in early-HD participants in Track-HD: an investigation of its effects on clinical performance
PLoS Curr
January 1, 2016
8
PMID: 26819833
PMCID: PMC4718719
Carvalho JO, Long JD, Westervelt HJ, Smith MM, Bruce JM, Kim JI, Mills JA, Paulsen JS, PREDICT-HD Investigators and Coordinators of The Huntington Study Group
The impact of oculomotor functioning on neuropsychological performance in Huntington disease
J Clin Exp Neuropsychol
January 1, 2016
38 (2) :217-26
PMID: 26745770
Gregory S, Cole JH, Farmer RE, Rees EM, Roos RA, Sprengelmeyer R, Durr A, Landwehrmeyer B, Zhang H, Scahill RI, Tabrizi SJ, Frost C, Hobbs NZ
Longitudinal diffusion tensor imaging shows progressive changes in white matter in Huntington's disease
J Huntingtons Dis
December 27, 2015
4 (4) :333-46
PMID: 26756590
Puigdellivol M, Cherubini M, Brito V, Giralt A, Suelves N, Ballesteros J, Zamora-Moratalla A, Martin ED, Eipper BA, Alberch J, Gines S
A role for Kalirin-7 in corticostriatal synaptic dysfunction in Huntington`s disease
Hum Mol Genet
December 20, 2015
24 (25) :7265-85
PMID: 26464483
PMCID: PMC4664166
Dominguez DJF, Stout JC, Poudel G, Churchyard A, Chua P, Egan GF, Georgiou-Karistianis N
Multimodal imaging biomarkers in premanifest and early Huntington`s disease: 30-month IMAGE-HD data
Br J Psychiatry
December 17, 2015
208 (6) :571-8
PMID: 26678864
Luckhurst CA, Breccia P, Stott AJ, Aziz O, Birch HL, Bürli RW, Hughes SJ, Jarvis RE, Lamers M, Leonard PM, Matthews KL, McAllister G, Pollack S, Saville-Stones E, Wishart G, Yates D, Dominguez C
Potent, selective, and CNS-penetrant tetrasubstituted cyclopropane class IIa Histone Deacetylase (HDAC) Inhibitors
ACS Med Chem Lett
December 10, 2015
7 (1) :34-9
PMID: 26819662
PMCID: PMC4716601
Ring KL, An MC, Zhang N, O’Brien RN, Ramos EM, Gao F, Atwood R, Bailus BJ, Melov S, Mooney SD, Coppola G, Ellerby LM
Genomic analysis reveals disruption of striatal neuronal development and therapeutic targets in human Huntington's disease neural stem cells
Stem Cell Reports
December 8, 2015
5 (6) :1023-1038
PMID: 26651603
PMCID: PMC4682390
Dickey AS, Pineda VV, Tsunemi T, Liu PP, Miranda HC, Gilmore-Hall SK, Lomas N, Sampat KR, Buttgereit A, Torres MM, Flores AL, Arreola M, Arbez N, Akimov SS, Gaasterland T, Lazarowski ER, Ross CA, Yeo GW, Sopher BL, Magnuson GK, Pinkerton AB, Masliah E, La Spada AR
PPAR-delta is repressed in Huntington`s disease, is required for normal neuronal function and can be targeted therapeutically
Nat Med
December 7, 2015
22 (1) :37-45
PMID: 26642438
Banez-Coronel M, Ayhan F, Tarabochia AD, Zu T, Perez BA, Tusi SK, Pletnikova O, Borchelt DR, Ross CA, Margolis RL, Yachnis AT, Troncoso JC, Ranum LP
RAN translation in Huntington disease
Neuron
November 18, 2015
88 (4) :667-77
PMID: 26590344
PMCID: PMC4684947