CHDI
Listed here are over 1,142 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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Title
Journal
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
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
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
4 (2) :106-118
PMID: 28168210
PMCID: 5288460
DOI: 10.1002/acn3.384
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
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
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
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
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
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
5 (4) :303-331
PMID: 27983564
PMCID: 5181679
DOI: 10.3233/JHD-160221
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
524 (17) :3518-3529
PMID: 27219491
PMCID: PMC5050058
DOI: 10.1002/cne.24013
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
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
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
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
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
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
Ruggeri FS, Vieweg S, Cendrowska U, Longo G, Chiki A, Lashuel HA, Dietler G
Nanoscale studies link amyloid maturity with polyglutamine diseases onset
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
5 (8) :437-45
PMID: 27481337
PMCID: PMC4999607
DOI: 10.1002/psp4.12097
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
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
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
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
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
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
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
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
4 (2) :212-224
PMID: 30363395
PMCID: PMC6174428
DOI: 10.1002/mdc3.12388
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
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
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
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
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
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
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
Zhang N, Bailus BJ, Ring KL, Ellerby LM
iPSC-based drug screening for Huntington's disease
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
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
25 (8) :1619-36
PMID: 26908599
PMCID: PMC4805312
DOI: 10.1093/hmg/ddw040
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
Baake V, Hart EP, Bos R, Roos RA
Participants at the Leiden site of the REGISTRY Study: a demographic approach
Munoz-Sanjuan I
Support communities involved in disease studies
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