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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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
Bigan E, Sasidharan Nair S, Lejeune FX, Fragnaud H, Parmentier F, Mégret L, Verny M, Aaronson J, Rosinski J, Neri C
Genetic cooperativity in multi-layer networks implicates cell survival and senescence in the striatum of Huntington's disease mice synchronous to symptoms
Bioinformatics
June 24, 2019
PMID: 31228193
Poudel GR, Harding IH, Egan GF, Georgiou-Karistianis N
Network spread determines severity of degeneration and disconnection in Huntington's disease
Hum Brain Mapp
June 12, 2019
:43840
PMID: 31187915
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: PMC6568089
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
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
Elife
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
MAGMA
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