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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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
Harding RJ, Loppnau P, Ackloo S, Lemak A, Hutchinson A, Hunt B, Holehouse AS, Ho JC, Fan L, Toledo-Sherman L, Seitova A, Arrowsmith CH
Design and characterization of mutant and wildtype huntingtin proteins produced from a toolkit of scalable eukaryotic expression systems
J Biol Chem
April 26, 2019
294 (17) :6986-7001
PMID: 30842263
Carrillo-Reid L, Day M, Xie Z, Melendez AE, Kondapalli J, Plotkin JL, Wokosin DL, Chen Y, Kress GJ, Kaplitt M, Ilijic E, Guzman JN, Chan SS, Surmeier DJ
Mutant huntingtin enhances activation of dendritic Kv4 K(+) channels in striatal spiny projection neurons
April 24, 2019
8 :e40818
PMID: 31017573
Espinoza FA, Liu J, Ciarochi J, Turner JA, Vergara VM, Caprihan A, Misiura M, Johnson HJ, Long JD, Bockholt JH, Paulsen JS, Calhoun VD
Dynamic functional network connectivity in Huntington's disease and its associations with motor and cognitive measures
Hum Brain Mapp
April 15, 2019
40 (6) :1955-1968
PMID: 30618191
Todorov DI, Capps RA, Barnett WH, Latash EM, Kim T, Hamade KC, Markin SN, Rybak IA, Molkov YI
The interplay between cerebellum and basal ganglia in motor adaptation: A modeling study
PLoS One
April 12, 2019
14 (4) :e0214926
PMID: 30978216
PMCID: PMC6461234
Tang X, Ross CA, Johnson H, Paulsen JS, Younes L, Albin RL, Ratnanather JT, Miller MI
Regional subcortical shape analysis in premanifest Huntington's disease
Hum Brain Mapp
April 1, 2019
40 (5) :1419-1433
PMID: 30376191
Toledo-Sherman L, Breccia P, Cachope R, Bate JR, Angulo-Herrera I, Wishart G, Matthews KL, Martin SL, Cox HC, McAllister G, Penrose SD, Vater H, Esmieu W, Van de Poël A, Van de Bospoort R, Strijbosch A, Lamers M, Leonard P, Jarvis RE, Blackaby W, Barnes K, Eznarriaga M, Dowler S, Smith GD, Fischer DF, Lazari O, Yates D, Rose M, Jang SW, Muñoz-Sanjuan I, Dominguez C
Optimization of potent and selective ataxia telangiectasia-mutated inhibitors suitable for a proof-of-concept study in Huntington's disease models
J Med Chem
March 28, 2019
62 (6) :2988-3008
PMID: 30840447
Reindl W, Baldo B, Schulz J, Janack I, Lindner I, Kleinschmidt M, Sedaghat Y, Thiede C, Tillack K, Schmidt C, Cardaun I, Schwagarus T, Herrmann F, Hotze M, Osborne GF, Herrmann S, Weiss A, Zerbinatti C, Bates GP, Bard J, Munoz-Sanjuan I, Macdonald D
Meso scale discovery-based assays for the detection of aggregated huntingtin
PLoS One
March 26, 2019
14 (3) :e0213521
PMID: 30913220
Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M
Hypomorphic mutation of the mouse Huntington's disease gene orthologue
PLoS Genet
March 21, 2019
15 (3) :e1007765
PMID: 30897080
Zlebnik NE, Gildish I, Sesia T, Fitoussi A, Cole EA, Carson BP, Cachope R, Cheer JF
Motivational impairment is accompanied by corticoaccumbal dysfunction in the BACHD-Tg5 rat model of Huntington's disease
Cereb Cortex
February 28, 2019
PMID: 30753343
Merienne N, Meunier C, Schneider A, Seguin J, Nair SS, Rocher AB, Le Gras S, Keime C, Faull R, Pellerin L, Chatton JY, Neri C, Merienne K, Déglon N
Cell-type-specific gene expression profiling in adult mouse brain reveals normal and disease-state signatures
Cell Rep
February 26, 2019
26 (9) :2477-2493
PMID: 30811995
Kang R, Wang L, Sanders SS, Zuo K, Hayden MR, Raymond LA
Altered regulation of striatal neuronal N-Methyl-D-Aspartate receptor trafficking by palmitoylation in Huntington disease mouse model
Front Synaptic Neurosci
February 21, 2019
11 (3)
PMID: 30846936
PMCID: PMC6393405
Castaldo I, De Rosa M, Romano A, Zuchegna C, Squitieri F, Mechelli R, Peluso S, Borrelli C, Del Mondo A, Salvatore E, Vescovi LA, Migliore S, De Michele G, Ristori G, Romano S, Avvedimento EV, Porcellini A
DNA damage signatures in peripheral blood cells as biomarkers in prodromal huntington disease
Ann Neurol
February 21, 2019
85 (2) :296-301
PMID: 30549309
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
February 15, 2019
PMID: 30771034
Tousley A, Iuliano M, Weisman E, Sapp E, Richardson H, Vodicka P, Alexander J, Aronin N, DiFiglia M, Kegel-Gleason KB
Huntingtin associates with the actin cytoskeleton and α-actinin isoforms to influence stimulus dependent morphology changes
PLoS One
February 15, 2019
14 (2) :e0212337
PMID: 30768638
Kedaigle AJ, Fraenkel E, Atwal RS, Wu M, Gusella JF, MacDonald ME, Kaye JA, Finkbeiner S, Mattis VB, Tom CM, Svendsen C, King AR, Chen Y, Stocksdale JT, Lim RG, Casale M, Wang PH, Thompson LM, Akimov SS, Ratovitski T, Arbez N, Ross CA
Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites
Hum Mol Genet
February 15, 2019
PMID: 30768179
Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
Hum Mol Genet
February 15, 2019
28 (4) :650-661
PMID: 30358836
PMCID: PMC6360275
Rieke L, Fels M, Schubert R, Habbel B, Matheis T, Schuldenzucker V, Kemper N, Reilmann R
Activity behaviour of minipigs transgenic for the Huntington gene
J Huntingtons Dis
February 13, 2019
8 (1) :23-31
PMID: 30689591
Smatlikova P, Juhas S, Juhasova J, Suchy T, Hubalek Kalbacova M, Ellederova Z, Motlik J, Klima J
Adipogenic differentiation of bone marrow-derived mesenchymal stem cells in pig transgenic model expressing human mutant huntingtin
J Huntingtons Dis
February 13, 2019
8 (1) :33-51
PMID: 30584151
Perez-Rosello T, Gelman S, Tombaugh G, Cachope R, Beaumont V, Surmeier DJ
Enhanced striatopallidal gamma-aminobutyric acid (GABA)(A) receptor transmission in mouse models of huntington's disease
Mov Disord
February 6, 2019
34 (5) :684-696
PMID: 30726572
Ciarochi JA, Johnson HJ, Calhoun VD, Liu J, Espinoza FA, Bockholt HJ, Misiura M, Caprihan A, Plis S, Paulsen JS, Turner JA, PREDICT-HD Investigators and Coordinators of the Huntington Study Group
Concurrent cross-sectional and longitudinal analyses of multivariate white matter profiles and clinical functioning in pre-diagnosis Huntington disease
J Huntingtons Dis
February 5, 2019
8 (2) :199-219
PMID: 30932891
Paulsen JS, Lourens S, Kieburtz K, Zhang Y
Sample enrichment for clinical trials to show delay of onset in Huntington disease
Mov Disord
February 1, 2019
34 (2) :274-280
PMID: 30644132
Padovan-Neto FE, Jurkowski L, Murray C, Stutzmann GE, Kwan M, Ghavami A, Beaumont V, Park LC, West AR
Age- and sex-related changes in cortical and striatal nitric oxide synthase in the Q175 mouse model of Huntington's disease
Nitric Oxide
February 1, 2019
83 :40-50
PMID: 30528913
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: PMC6951948
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: PMC6240282
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