Scientific Publications

Listed here are over 850 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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Holley SM, Galvan L, Kamdjou T, Cepeda C, Levine MS
Striatal GABAergic interneuron dysfunction in the Q175 mouse model of Huntington's disease
Eur J Neurosci
January 30, 2019
49 (1) :79-93
PMID: 30472747
Rodrigues FB, Byrne LM, De Vita E, Johnson EB, Hobbs NZ, Thornton JS, Scahill RI, Wild EJ
Cerebrospinal fluid flow dynamics in Huntington's disease evaluated by phase contrast MRI
Eur J Neurosci
January 28, 2019
PMID: 30687961
Sun Z, Ghosh S, Li Y, Cheng Y, Mohan A, Sampaio C, Hu J
A probabilistic disease progression modeling approach and its application to integrated Huntington's disease observational data
January 7, 2019
2 (1) :123-130
PMID: 31984350
PMCID: 6951948
Lu M, Banetta L, Young LJ, Smith EJ, Bates GP, Zaccone A, Kaminski Schierle GS, Tunnacliffe A, Kaminski CF
Live-cell super-resolution microscopy reveals a primary role for diffusion in polyglutamine-driven aggresome assembly
J Biol Chem
January 4, 2019
294 (1) :257-268
PMID: 30401748
PMCID: PMC6322900
Osipovitch M, Asenjo Martinez A, Mariani JN, Cornwell A, Dhaliwal S, Zou L, Chandler-Militello D, Wang S, Li X, Benraiss SJ, Agate R, Lampp A, Benraiss A, Windrem MS, Goldman SA
Human ESC-derived chimeric mouse models of Huntington's disease reveal cell-intrinsic defects in glial progenitor cell differentiation
Cell Stem Cell
January 3, 2019
24 (1) :107-122
PMID: 30554964
Luckhurst CA, Aziz O, Beaumont V, Bürli RW, Breccia P, Maillard MC, Haughan AF, Lamers M, Leonard P, Matthews KL, Raphy G, Stott AJ, Munoz-Sanjuan I, Thomas B, Wall M, Wishart G, Yates D, Dominguez C
Development and characterization of a CNS-penetrant benzhydryl hydroxamic acid class IIa histone deacetylase inhibitor
Bioorg Med Chem Lett
January 1, 2019
29 (1) :83-88
PMID: 30463802
Naze S, Humble J, Zheng P, Barton S, Rangel-Barajas C, Rebec GV, Kozloski JR
Cortico-striatal cross-frequency coupling and gamma genesis disruptions in Huntington's disease mouse and computational models
December 21, 2018
5 (6)
PMID: 30627632
PMCID: PMC6325534
Bravo-Arredondo JM, Kegulian NC, Schmidt T, Pandey NK, Situ AJ, Ulmer TS, Langen R
The folding equilibrium of huntingtin exon 1 monomer depends on its polyglutamine tract
J Biol Chem
December 21, 2018
293 (51) :19613-19623
PMID: 30315108
PMCID: PMC6314148
Wang D, Zhong L, Li M, Li J, Tran K, Ren L, He R, Xie J, Moser RP, Fraser C, Kuchel T, Sena-Esteves M, Flotte TR, Aronin N, Gao G
Adeno-associated virus neutralizing antibodies in large animals and their impact on brain intraparenchymal gene transfer
Mol Ther Methods Clin Dev
December 14, 2018
11 :65-72
PMID: 30397628
PMCID: PMC6205343
McBride SD, Morton AJ
Indices of comparative cognition: assessing animal models of human brain function
Exp Brain Res
December 3, 2018
236 (12) :3379-3390
PMID: 30267138
PMCID: PMC6267686
Kuljis D, Kudo T, Tahara Y, Ghiani CA, Colwell CS
Pathophysiology in the suprachiasmatic nucleus in mouse models of Huntington's disease
J Neurosci Res
December 3, 2018
96 (12) :1862-1875
PMID: 30168855
Mondo E, Moser R, Gao G, Mueller C, Sena-Esteves M, Sapp E, Pfister E, O’Connell D, Takle K, Erger KE, Liu W, Conlon TJ, DiFiglia M, Gounis MJ, Aronin N
Selective neuronal uptake and distribution of AAVrh8, AAV9, and AAVrh10 in sheep after intra-striatal administration
J Huntingtons Dis
November 24, 2018
7 (4) :309-319
PMID: 30320596
Garcia TP, Wang Y, Shoulson I, Paulsen JS, Marder K
Disease progression in Huntington disease: an analysis of multiple longitudinal outcomes
J Huntingtons Dis
November 23, 2018
7 (4) :337-344
PMID: 30400103
Long JD, Mills JA
Joint modeling of multivariate longitudinal data and survival data in several observational studies of Huntington's disease
BMC Med Res Methodol
November 16, 2018
18 (1) :138
PMID: 30445915
PMCID: 6240282
Godinho BMDC, Henninger N, Bouley J, Alterman JF, Haraszti RA, Gilbert JW, Sapp E, Coles AH, Biscans A, Nikan M, Echeverria D, DiFiglia M, Aronin N, Khvorova A
Transvascular delivery of hydrophobically modified siRNAs: gene silencing in the rat brain upon disruption of the blood-brain barrier
Mol Ther
November 7, 2018
26 (11) :2580-2591
PMID: 30143435
Rocha NP, Mwangi B, Gutierrez Candano CA, Sampaio C, Furr Stimming E, Teixeira AL
The clinical picture of psychosis in manifest Huntington's disease: a comprehensive analysis of the Enroll-HD database
Front Neurol
November 6, 2018
9 (930)
PMID: 30459704
PMCID: PMC6232301
Rowley CD, Tabrizi SJ, Scahill RI, Leavitt BR, Roos RAC, Durr A, Bock NA
Altered intracortical T(1)-weighted/T(2)-weighted ratio signal in Huntington's disease
Front Neurosci
November 5, 2018
12 :805
PMID: 30455625
PMCID: PMC6230564
Zhang J, Gregory S, Scahill RI, Durr A, Thomas DL, Lehericy S, Rees G, Tabrizi SJ, Zhang H, TrackOn-HD investigators
In vivo characterization of white matter pathology in premanifest huntington's disease
Ann Neurol
October 29, 2018
84 (4) :497-504
PMID: 30063250
PMCID: PMC6221120
Bertoglio D, Verhaeghe J, Kosten L, Thomae D, Van der Linden A, Stroobants S, Wityak J, Dominguez C, Mrzljak L, Staelens S
MR-based spatial normalization improves [18F]MNI-659 PET regional quantification and detectability of disease effect in the Q175 mouse model of Huntington's disease
PLoS One
October 26, 2018
13 (10) :e0206613
PMID: 30365550
PMCID: PMC6203386
Piiponniemi TO, Parkkari T, Heikkinen T, Puoliväli J, Park LC, Cachope R, Kopanitsa MV
Impaired performance of the Q175 mouse model of Huntington's disease in the touch screen paired associates learning task
Front Behav Neurosci
October 2, 2018
12 (226)
PMID: 30333735
PMCID: PMC6176131
Aron R, Pellegrini P, Green EW, Maddison DC, Opoku-Nsiah K, Wong JS, Daub AC, Giorgini F, Finkbeiner S
Deubiquitinase Usp12 functions noncatalytically to induce autophagy and confer neuroprotection in models of Huntington's disease
Nat Commun
September 28, 2018
9 (1) :3191
PMID: 30266909
PMCID: PMC6162324
Neueder A, Dumas AA, Benjamin AC, Bates GP
Regulatory mechanisms of incomplete huntingtin mRNA splicing
Nat Commun
September 27, 2018
9 (1) :3955
PMID: 30262848
PMCID: PMC6160442
Byrne LM, Rodrigues FB, Johnson EB, Wijeratne PA, De Vita E, Alexander DC, Palermo G, Czech C, Schobel S, Scahill RI, Heslegrave A, Zetterberg H, Wild EJ
Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington's disease
Sci Transl Med
September 12, 2018
10 (458) :eaat7108
PMID: 30209243
Siebzehnrübl FA, Raber KA, Urbach YK, Schulze-Krebs A, Canneva F, Moceri S, Habermeyer J, Achoui D, Gupta B, Steindler DA, Stephan M, Nguyen HP, Bonin M, Riess O, Bauer A, Aigner L, Couillard-Despres S, Paucar MA, Svenningsson P, Osmand A, Andreew A, Zabel C, Weiss A, Kuhn R, Moussaoui S, Blockx I, Van der Linden A, Cheong RY, Roybon L, Petersén Å, von Hörsten S
Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition
Proc Natl Acad Sci USA
September 11, 2018
115 (37) :E8765-E8774
PMID: 30150378
PMCID: PMC6140493
Ast A, Buntru A, Schindler F, Hasenkopf R, Schulz A, Brusendorf L, Klockmeier K, Grelle G, McMahon B, Niederlechner H, Jansen I, Diez L, Edel J, Boeddrich A, Franklin SA, Baldo B, Schnoegl S, Kunz S, Purfürst B, Gaertner A, Kampinga HH, Morton AJ, Petersén Å, Kirstein J, Bates GP, Wanker EE
mHTT seeding activity: a marker of disease progression and neurotoxicity in models of Huntington's disease
Mol Cell
September 6, 2018
71 (5) :675-688
PMID: 30193095
Evers MM, Miniarikova J, Juhas S, Vallès A, Bohuslavova B, Juhasova J, Skalnikova HK, Vodicka P, Valekova I, Brouwers C, Blits B, Lubelski J, Kovarova H, Ellederova Z, van Deventer SJ, Petry H, Motlik J, Konstantinova P
AAV5-miHTT gene therapy demonstrates broad distribution and strong human mutant huntingtin lowering in a Huntington's disease minipig model
Mol Ther
September 5, 2018
26 (9) :2163-2177
PMID: 30007561
PMCID: PMC6127509
Didiot MC, Ferguson CM, Ly S, Coles AH, Smith AO, Bicknell AA, Hall LM, Sapp E, Echeverria D, Pai AA, DiFiglia M, Moore MJ, Hayward LJ, Aronin N, Khvorova A
Nuclear localization of Huntingtin mRNA is specific to cells of neuronal origin
Cell Rep
September 4, 2018
24 (10) :2553-2560
PMID: 30184490
Goodliffe JW, Song H, Rubakovic A, Chang W, Medalla M, Weaver CM, Luebke JI
Differential changes to D1 and D2 medium spiny neurons in the 12-month-old Q175+/- mouse model of Huntington's disease
PLoS One
August 17, 2018
13 (8) :e0200626
PMID: 30118496
PMCID: PMC6097649
Haraszti RA, Miller R, Didiot MC, Biscans A, Alterman JF, Hassler MR, Roux L, Echeverria D, Sapp E, DiFiglia M, Aronin N, Khvorova A
Optimized cholesterol-siRNA chemistry improves productive loading onto extracellular vesicles
Mol Ther
August 1, 2018
26 (8) :1973-1982
PMID: 29937418
Rieke L, Schubert R, Matheis T, Muratori LM, Motlik J, Schramke S, Fels M, Kemper N, Schuldenzucker V, Reilmann R
Vocalisation as a viable assessment for phenotyping minipigs transgenic for the Huntington gene?
J Huntingtons Dis
July 31, 2018
7 (3) :269-278
PMID: 30103340
McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P, Jones L, REGISTRY Investigators of the European Huntington’s Disease Network
Reduced cancer incidence in Huntington's disease: Analysis in the Registry study
J Huntingtons Dis
July 31, 2018
7 (3) :209-222
PMID: 30103338
Wesson M, Boileau NR, Perlmutter JS, Paulsen JS, Barton SK, McCormack MK, Carlozzi NE
Suicidal ideation assessment in individuals with premanifest and manifest Huntington disease
J Huntingtons Dis
July 31, 2018
7 (3) :239-249
PMID: 30056431
PMCID: PMC6108173
Pido-Lopez J, Andre R, Benjamin AC, Ali N, Farag S, Tabrizi SJ, Bates GP
In vivo neutralization of the protagonist role of macrophages during the chronic inflammatory stage of Huntington's disease
Sci Rep
July 30, 2018
8 (1) :11447
PMID: 30061661
Mir A, Alterman JF, Hassler MR, Debacker AJ, Hudgens E, Echeverria D, Brodsky MH, Khvorova A, Watts JK, Sontheimer EJ
Heavily and fully modified RNAs guide efficient SpyCas9-mediated genome editing
Nat Commun
July 6, 2018
9 (1) :2641
PMID: 29980686
Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Johnson EB, Durr A, Roos RAC, Leavitt BR, Mills JA, Stout JC, Scahill RI, Tabrizi SJ, Rees G, Track-On investigators
Testing a longitudinal compensation model in premanifest Huntington's disease
July 2, 2018
141 (7) :2156-2166
PMID: 29788038
PMCID: 6022638
Ko J, Isas JM, Sabbaugh A, Yoo JH, Pandey NK, Chongtham A, Ladinsky M, Wu WL, Rohweder H, Weiss A, Macdonald D, Munoz-Sanjuan I, Langen R, Patterson PH, Khoshnan A
Identification of distinct conformations associated with monomers and fibril assemblies of mutant huntingtin
Hum Mol Genet
July 1, 2018
27 (13) :2330–2343
PMID: 29912367
Fritz NE, Boileau NR, Stout JC, Ready R, Perlmutter JS, Paulsen JS, Quaid K, Barton S, McCormack MK, Perlman SL, Carlozzi NE, Huntington Disease Quality of Life Site Investigators and Coordinators
Relationships among apathy, health-related quality of life, and function in Huntington's disease
J Neuropsychiatry Clin Neurosci
June 29, 2018
30 (3) :194-201
PMID: 29558861
PMCID: 6081241
Verhaeghe J, Bertoglio D, Kosten L, Thomae D, Verhoye M, Van Der Linden A, Wyffels L, Stroobants S, Wityak J, Dominguez C, Mrzljak L, Staelens S
Noninvasive relative quantification of [(11)C]ABP688 PET imaging in mice versus an input function measured over an arteriovenous shunt
Front Neurol
June 29, 2018
9 (516)
PMID: 30013509
PMCID: PMC6036254
Reif A, Chiki A, Ricci J, Lashuel HA
Generation of native, untagged Huntingtin Exon1 monomer and fibrils using a SUMO fusion strategy
J Vis Exp
June 27, 2018
PMID: 30010666
Carlozzi NE, Boileau NR, Perlmutter JS, Chou KL, Stout JC, Paulsen JS, McCormack MK, Cella D, Nance MA, Lai JS, Dayalu P
Agreement between clinician-rated versus patient-reported outcomes in Huntington disease
J Neurol
June 22, 2018
265 (6) :1443-1453
PMID: 29687215
PMCID: 5992091