Scientific Publications

Listed here are over 1,035 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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Gregory S, Odish OFF, Mayer I, Mills J, Johnson EB, Scahill RI, Rothwell J, Rees G, Long JD, Tabrizi SJ, Roos RAC, Orth M
Multimodal characterization of the visual network in Huntington's disease gene carriers
Clin Neurophysiol
November 1, 2019
130 (11) :2053-2059
PMID: 31541982
Ciosi M, Maxwell A, Cumming SA, Hensman Moss DJ, Alshammari AM, Flower MD, Durr A, Leavitt BR, Roos RAC, TRACK-HD team, Enroll-HD team Holmans P, Jones L, Langbehn DR, Kwak S, Tabrizi SJ, Monckton DG
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
EBioMedicine
October 30, 2019
48 :568-580
PMID: 31607598
Diaz-Castro B, Gangwani MR, Yu X, Coppola G, Khakh BS
Astrocyte molecular signatures in Huntington's disease
Sci Transl Med
October 16, 2019
11 (514) :eaaw8546
PMID: 31619545
Haremaki T, Metzger JJ, Rito T, Ozair MZ, Etoc F, Brivanlou AH
Self-organizing neuruloids model developmental aspects of Huntington's disease in the ectodermal compartment
Nat Biotechnol
October 11, 2019
37 (10) :1198-1208
PMID: 31501559
Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM
Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA
J Hum Genet
October 1, 2019
64 (10) :995-1004
PMID: 31296921
Poudel GR, Harding IH, Egan GF, Georgiou-Karistianis N
Network spread determines severity of degeneration and disconnection in Huntington's disease
Hum Brain Mapp
October 1, 2019
40 (14) :4192-4201
PMID: 31187915
PMCID: 6865500
Sap KA, Guler AT, Bezstarosti K, Bury AE, Juenemann K, Demmers JAA, Reits EA
Global proteome and ubiquitinome changes in the soluble and insoluble fractions of Q175 Huntington mice brains
Mol Cell Proteomics
September 30, 2019
18 (9) :1705-1720
PMID: 31138642
PMCID: PMC6731087
Khakh BS
Astrocyte-neuron interactions in the striatum: insights on identity, form, and function
Trends Neurosci
September 4, 2019
42 (9) :617-630
PMID: 31351745
van der Plas E, Langbehn DR, Conrad AL, Koscik TR, Tereshchenko A, Epping EA, Magnotta VA, Nopoulos PC
Abnormal brain development in child and adolescent carriers of mutant huntingtin
Neurology
September 3, 2019
93 (10) :e1021-e1030
PMID: 31371571
Kubera KM, Schmitgen MM, Hirjak D, Wolf RC, Orth M
Cortical neurodevelopment in pre-manifest Huntington's disease
Neuroimage Clin
September 2, 2019
23 :101913
PMID: 31491822
PMCID: PMC6627026
Wanker EE, Ast A, Schindler F, Trepte P, Schnoegl S
The pathobiology of perturbed mutant huntingtin protein-protein interactions in Huntington's disease
J Neurochem
August 16, 2019
151 (4) :507-519
PMID: 31418858
Swainson LA, Ahn H, Pajanirassa P, Khetarpal V, Deleage C, Estes JD, Hunt PW, Munoz-Sanjuan I, McCune JM
Kynurenine 3-Monooxygenase inhibition during acute simian immunodeficiency virus infection lowers PD-1 expression and improves post-combination antiretroviral therapy CD4(+) T cell counts and body weight
J Immunol
August 15, 2019
203 (4) :899-910
PMID: 31285277
PMCID: PMC6684450
Langbehn DR, Stout JC, Gregory S, Mills JA, Durr A, Leavitt BR, Roos RAC, Long JD, Owen G, Johnson HJ, Borowsky B, Craufurd D, Reilmann R, Landwehrmeyer GB, Scahill RI, Tabrizi SJ, TRACK-HD and Track-On HD Groups
Association of CAG repeats with long-term progression in Huntington disease
JAMA Neurol
August 12, 2019
76 (11) :1375–85
PMID: 31403680
PMCID: 6692683
Federspiel JD, Greco TM, Lum KK, Cristea IM
Hdac4 interactions in Huntington's disease viewed through the prism of Multiomics
Mol Cell Proteomics
August 9, 2019
18 (8) :S92-S113
PMID: 31040226
GeM-HD Consortium, Lee JM, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Abu Elneel K, Ramos EM, Mysore JS, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, McAllister B, Massey T, Medway C, Stone TC, Hall L, Jones L, Holmans P, Kwak S, Ehrhardt AG, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Myers RH
CAG repeat not polyglutamine length determines timing of Huntington's disease onset
Cell
August 8, 2019
178 (4) :887-900
PMID: 31398342
PMCID: PMC6700281
Huhtala T, Poutiainen P, Rytkönen J, Lehtimäki K, Parkkari T, Kasanen I, Airaksinen AJ, Koivula T, Sweeney P, Kontkanen O, Wityak J, Dominiquez C, Park LC
Improved synthesis of [(18)F] fallypride and characterization of a Huntington's disease mouse model, zQ175DN KI, using longitudinal PET imaging of D2/D3 receptors
EJNMMI Radiopharm Chem
August 5, 2019
4 (1) :20
PMID: 31659519
Alterman JF, Godinho BMDC, Hassler MR, Ferguson CM, Echeverria D, Sapp E, Haraszti RA, Coles AH, Conroy F, Miller R, Roux L, Yan P, Knox EG, Turanov AA, King RM, Gernoux G, Mueller C, Gray-Edwards HL, Moser RP, Bishop NC, Jaber SM, Gounis MJ, Sena-Esteves M, Pai AA, DiFiglia M, Aronin N, Khvorova A
A divalent siRNA chemical scaffold for potent and sustained modulation of gene expression throughout the central nervous system
Nat Biotechnol
August 2, 2019
37 (8) :884-894
PMID: 31375812
Gatto RG, Ye AQ, Colon-Perez L, Mareci TH, Lysakowski A, Price SD, Brady ST, Karaman M, Morfini G, Magin RL
Detection of axonal degeneration in a mouse model of Huntington's disease: comparison between diffusion tensor imaging and anomalous diffusion metrics
MAGMA
August 2, 2019
32 (4) :461-471
PMID: 30771034
Kacher R, Lamazière A, Heck N, Kappes V, Mounier C, Despres G, Dembitskaya Y, Perrin E, Christaller W, Sasidharan Nair S, Messent V, Cartier N, Vanhoutte P, Venance L, Saudou F, Néri C, Caboche J, Betuing S
CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease
Brain
August 1, 2019
142 (8) :2432-2450
PMID: 31286142
Bertoglio D, Verhaeghe J, Miranda A, Kertesz I, Cybulska K, Korat Š, Wyffels L, Stroobants S, Mrzljak L, Dominguez C, Liu L, Skinbjerg M, Munoz-Sanjuan I, Staelens S
Validation and noninvasive kinetic modeling of [(11) C] UCB-J PET imaging in mice
J Cereb Blood Flow Metab
July 31, 2019
PMID: 31307287
Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Hensman Moss D, Jones L, Holmans P, TRACK-HD Investigators, OPTIMISTIC Consortium, Monckton DG, Tabrizi SJ
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
Brain
July 15, 2019
142 (7) :1876–1886
PMID: 31216018
PMCID: PMC6598626
Wilkes FA, Abaryan Z, Ching CRK, Gutman BA, Madsen SK, Walterfang M, Velakoulis D, Stout JC, Chua P, Egan GF, Thompson PM, Looi JCL, Georgiou-Karistianis N
Striatal morphology and neurocognitive dysfunction in Huntington disease: the IMAGE-HD study
Psychiatry Res Neuroimaging
July 12, 2019
291 :43838
PMID: 31330407
Franich NR, Hickey MA, Zhu C, Osborne GF, Ali N, Chu T, Bove NH, Lemesre V, Lerner RP, Zeitlin SO, Howland D, Neueder A, Landles C, Bates GP, Chesselet MF
Phenotype onset in Huntington's disease knock-in mice is correlated with the incomplete splicing of the mutant huntingtin gene
J Neurosci Res
July 8, 2019
97 (12) :1590-1605
PMID: 31282030
Shishegar R, Rajapakse S, Georgiou-Karistianis N
Altered cortical morphometry in pre-manifest Huntington's disease: Cross-sectional data from the IMAGE-HD study
Annu Int Conf IEEE Eng Med Biol
July 1, 2019
2019 :2844-2847
PMID: 31946485
Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE, Hinkley SJ, Ankoudinova I, Lam S, Guschin D, Kopan L, Cherone JM, Nguyen HB, Qiao G, Ataei Y, Mendel MC, Amora R, Surosky R, Laganiere J, Vu BJ, Narayanan A, Sedaghat Y, Tillack K, Thiede C, Gärtner A, Kwak S, Bard J, Mrzljak L, Park L, Heikkinen T, Lehtimäki KK, Svedberg MM, Häggkvist J, Tari L, Tóth M, Varrone A, Halldin C, Kudwa AE, Ramboz S, Day M, Kondapalli J, Surmeier DJ, Urnov FD, Gregory PD, Rebar EJ, Muñoz-Sanjuán I, Zhang HS
Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease
Nat Med
July 1, 2019
25 (7) :1131-1142
PMID: 31263285
Park S, Colwell CS
Do disruptions in the circadian timing system contribute to autonomic dysfunction in Huntington's disease?
Yale J Biol Med
June 27, 2019
92 (2) :291-303
PMID: 31249490
PMCID: 6585531
Evans AH, Okai D, Weintraub D, Lim SY, O’Sullivan SS, Voon V, Krack P, Sampaio C, Post B, Leentjens AFG, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag A, IPMDS Rating Scales Review Committee
Scales to assess impulsive and compulsive behaviors in Parkinson's disease: Critique and recommendations
Mov Disord
June 3, 2019
34 (6) :791-798
PMID: 31136681
Huguet G, Temel Y, Kádár E, Pol S, Casaca-Carreira J, Segura-Torres P, Jahanshahi A
Altered expression of dopaminergic cell fate regulating genes prior to manifestation of symptoms in a transgenic rat model of Huntington's disease
Brain Res
June 1, 2019
1712 :101-108
PMID: 30711400
Ochaba J, Fote G, Kachemov M, Thein S, Yeung SY, Lau AL, Hernandez S, Lim RG, Casale M, Neel MJ, Monuki ES, Reidling J, Housman DE, Thompson LM, Steffan JS
IKKβ slows Huntington's disease progression in R6/1 mice
Proc Natl Acad Sci USA
May 28, 2019
116 (22) :10952-10961
PMID: 31088970
Octeau JC, Gangwani MR, Allam SL, Tran D, Huang S, Hoang-Trong TM, Golshani P, Rumbell TH, Kozloski JR, Khakh BS
Transient, consequential increases in extracellular potassium ions accompany Channelrhodopsin2 excitation
Cell Rep
May 21, 2019
27 (8) :2249-2261.e7
PMID: 31116972
PMCID: PMC6582980
Dvorzhak A, Helassa N, Török K, Schmitz D, Grantyna R
Single synapse indicators of impaired glutamate clearance derived from fast iGlu u imaging of cortical afferents in the striatum of normal and Huntington (Q175) mice
J Neurosci
May 15, 2019
39 (20) :3970-3982
PMID: 30819797
Svedberg MM, Varnäs K, Varrone A, Mitsios N, Mulder J, Gulyás B, Beaumont V, Munoz-Sanjuan I, Zaleska MM, Schmidt CJ, Halldin C, Mrzljak L
In vitro phosphodiesterase 10A (PDE10A) binding in whole hemisphere human brain using the PET radioligand [(18)F] MNI-659
Brain Res
May 15, 2019
1711 :140-145
PMID: 30664847
Holley SM, Galvan L, Kamdjou T, Dong A, Levine MS, Cepeda C
Major contribution of somatostatin-expressing interneurons and cannabinoid receptors to increased GABA synaptic activity in the striatum of Huntington's disease mice
Front Synaptic Neurosci
May 14, 2019
11 (14)
PMID: 31139071
PMCID: PMC6527892
Pido-Lopez J, Tanudjojo B, Farag S, Bondulich MK, Andre R, Tabrizi SJ, Bates GP
Inhibition of tumour necrosis factor alpha in the R6/2 mouse model of Huntington's disease by etanercept treatment
Sci Rep
May 10, 2019
9 (1) :7202
PMID: 31076648
PMCID: PMC6510744
Sharma M, Subramaniam S
Rhes travels from cell to cell and transports Huntington disease protein via TNT-like protrusion
J Cell Biol
May 10, 2019
:pii: jcb.201807068
PMID: 31076452
Shahn Z, Li Y, Sun Z, Mohan A, Sampaio C, Hu J
G-Computation and hierarchical models for estimating multiple causal effects from observational disease registries with irregular visits
AMIA Jt Summits Transl Sci Proc
May 6, 2019
2019 :789-798
PMID: 31259036
PMCID: 6568089
Di Marco A, Gonzalez Paz O, Fini I, Vignone D, Cellucci A, Battista MR, Auciello G, Orsatti L, Zini M, Monteagudo E, Khetarpal V, Rose M, Dominguez C, Herbst T, Toledo-Sherman L, Summa V, Muñoz-Sanjuán I
Application of an in vitro blood-brain barrier model in the selection of experimental drug candidates for the treatment of Huntington's disease
Mol Pharm
May 6, 2019
16 (5) :2069-2082
PMID: 30916978
Shoulson I, Eberly S, Oakes D, Kayson E, Young AB PHAROS Investigators
Phenotype-genotype discrepancies in the prospective Huntington at-risk observational study
Ann Clin Transl Neurol
May 3, 2019
6 (6) :1046-1052
PMID: 31211168
PMCID: PMC6562068
Vizcarra JA, Sánchez-Ferro Á, Maetzler W, Marsili L, Zavala L, Lang AE, Martinez-Martin P, Mestre TA, Reilmann R, Hausdorff JM, Dorsey ER, Paul SS, Dexheimer JW, Wissel BD, Fuller RLM, Bonato P, Tan AH, Bloem BR, Kopil C, Daeschler M, Bataille L, Kleiner G, Cedarbaum JM, Klucken J, Merola A, Goetz CG, Stebbins GT, Espay AJ MDS Technology Task Force and MDS Rating Scales Program Electronic Development Ad-Hoc Committee
The Parkinson's disease e-diary: Developing a clinical and research tool for the digital age
Mov Disord
May 1, 2019
34 (5) :676-681
PMID: 30901492
Kojer K, Hering T, Bazenet C, Weiss A, Herrmann F, Taanman JW, Orth M
Huntingtin aggregates and mitochondrial pathology in skeletal muscle but not heart of late-stage R6/2 mice
J Huntingtons Dis
April 30, 2019
8 (2) :145–159
PMID: 30814364