Scientific Publications

Listed here are over 500 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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Batista AR, King OD, Reardon CP, Davis C, Shankaracharya, Philip V, Gray-Edwards H, Aronin N, Lutz C, Landers J, Sena-Esteves M
Ly6a differential expression in blood-brain barrier is responsible for strain specific central nervous system transduction profile of AAV-PHP.B.
Hum Gene Ther
January 30, 2020
31 (43832) :90-102
PMID: 31696742
Polosecki P, Castro E, Rish I, Pustina D, Warner JH, Wood A, Sampaio C, Cecchi GA
Resting-state connectivity stratifies premanifest Huntington's disease by longitudinal cognitive decline rate
Sci Rep
January 27, 2020
10 (1) :1252
PMID: 31988371
Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A, PEARL-HD and LONGPDE10 collaborators
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Mov Disord
January 22, 2020
35 (4) :606-615
PMID: 31967355
Kedaigle AJ, Reidling JC, Lim RG, Adam M, Wu J, Wassie B, Stocksdale JT, Casale MS, Fraenkel E, Thompson LM
Treatment with JQ1, a BET bromodomain inhibitor, is selectively detrimental to R6/2 Huntington's disease mice
Hum Mol Genet
January 20, 2020
29 (2) :202-215
PMID: 31696228
Chongtham A, Bornemann DJ, Barbaro BA, Lukacsovich T, Agrawal N, Syed A, Worthge S, Purcell J, Burke J, Chin TM, Marsh JL
Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT
Hum Mol Genet
January 16, 2020
PMID: 31943010
Julayanont P, McFarland NR, Heilman KM
Mild cognitive impairment and dementia in motor manifest Huntington's disease: Classification and prevalence
J Neurol Sci
January 15, 2020
408 :116523
PMID: 31678902
Cariulo C, Verani M, Martufi P, Ingenito R, Finotto M, Deguire SM, Lavery DJ, Toledo-Sherman L, Lee R, Doherty EM, Vogt TF, Dominguez C, Lashuel HA, Petricca L, Caricasole A
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13
Biochem Biophys Res Commun
January 15, 2020
521 (3) :549-554
PMID: 31677786
Julayanont P, Heilman KM, McFarland NR|
Early-motor phenotype relates to neuropsychiatric and cognitive disorders in Huntington's disease
Mov Disord
January 10, 2020
PMID: 31922295
Bertoglio D, Verhaeghe J, Korat Š, Miranda A, Cybulska K, Wyffels L, Stroobants S, Mrzljak L, Dominguez C, Skinbjerg M, Liu L, Munoz-Sanjuan I, Staelens S
Elevated type 1 metabotropic glutamate receptor availability in a mouse model of Huntington's disease: a longitudinal PET study
Mol Neurobiol
January 10, 2020
PMID: 31912442
Pflanz CP, Charquero-Ballester M, Majid DSA, Winkler AM, Vallée E, Aron AR, Jenkinson M, Douaud G
One-year changes in brain microstructure differentiate preclinical Huntington's disease stages
Neuroimage Clin
January 6, 2020
25 :102099
PMID: 31865023
Aviolat H, Pinto RM, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason KB, DiFiglia M
Assessing average somatic CAG repeat instability at the protein level
Sci Rep
December 16, 2019
9 (1) :19152
PMID: 31844074
Chandra A, Valkimadi PE, Pagano G, Cousins O, Dervenoulas G, Politis M, Alzheimer’s Disease Neuroimaging Initiative
Applications of amyloid, tau, and neuroinflammation PET imaging to Alzheimer's disease and mild cognitive impairment
Hum Brain Mapp
December 15, 2019
40 (18) :5424-5442
PMID: 31520513
Ardan T, Baxa M, Levinská B, Sedláčková M, Nguyen TD, Klíma J, Juhás Š, Juhásová J, Šmatlíková P, Vochozková P, Motlík J, Ellederová Z
Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
Dis Model Mech
December 12, 2019
13 (2) :dmm041319
PMID: 31645369
PMCID: PMC6918760
Bertoglio D, Verhaeghe J, Korat Š, Miranda A, Wyffels L, Stroobants S, Mrzljak L, Dominguez C, Liu L, Skinbjerg M, Munoz-Sanjuan I, Staelens S
In vitro and In vivo assessment of suitable reference region and kinetic modelling for the mGluR1 radioligand [(11)C] ITDM in mice
Mol Imaging Biol
December 2, 2019
PMID: 31792838
Estrada-Sánchez AM, Blake CL, Barton SJ, Howe AG, Rebec GV
Lack of mutant huntingtin in cortical efferents improves behavioral inflexibility and corticostriatal dynamics in Huntington's disease mice
J Neurophysiol
December 2, 2019
122 (6) :2621-2629
PMID: 31693428
PMCID: PMC6966319
Smarr B, Cutler T, Loh DH, Kudo T, Kuljis D, Kriegsfeld L, Ghiani CA, Colwell CS
Circadian dysfunction in the Q175 model of Huntington's disease: Network analysis
J Neurosci Res
December 2, 2019
97 (12) :1606-1623
PMID: 31359503
Papadopoulou AS, Gomez-Paredes C, Mason MA, Taxy BA, Howland D, Bates GP
Extensive expression analysis of Htt transcripts in brain regions from the zQ175 HD mouse model using a QuantiGene multiplex assay
Sci Rep
November 6, 2019
9 (1) :16137
PMID: 31695145
Irvine EE, Katsouri L, Plattner F, Al-Qassab H, Al-Nackkash R, Bates GP, Withers DJ
Genetic deletion of S6k1 does not rescue the phenotypic deficits observed in the R6/2 mouse model of Huntington's disease
Sci Rep
November 6, 2019
9 (1) :16133
PMID: 31695068
PMCID: PMC6834565
Marottoli FM, Priego M, Flores-Barrera E, Pisharody R, Zaldua S, Fan KD, Ekkurthi GK, Brady ST, Morfini GA, Tseng KY, Tai LM
EGF treatment improves motor behavior and cortical GABAergic function in the R6/2 mouse model of Huntington's disease
Mol Neurobiol
November 5, 2019
56 (11) :7708-7718
PMID: 31104296
PMCID: PMC6815691
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
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
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
PMID: 31403680
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
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