Scientific Publications

Listed here are over 700 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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Friedman A, Hueske E, Drammis SM, Toro Arana SE, Nelson ED, Carter CW, Delcasso S, Rodriguez RX, Lutwak H, DiMarco KS, Zhang Q, Rakocevic LI, Hu D, Xiong JK, Zhao J, Gibb LG, Yoshida T, Siciliano CA, Diefenbach TJ, Ramakrishnan C, Deisseroth K, Graybiel AM
Striosomes mediate value-based learning vulnerable in age and a Huntington's disease model
Cell
November 12, 2020
183 (4) :918-934
PMID: 33113354
Bertoglio D, Verhaeghe J, Miranda A, Wyffels L, Stroobants S, Dominguez C, Munoz-Sanjuan I, Skinbjerg M, Liu L, Staelens S
Kinetic modelling and test-retest reproducibility for the dopamine D1R radioligand [11C]SCH23390 in healthy and diseased mice
Mol Imaging Biol
November 11, 2020
PMID: 33179158
Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out
Hum Mol Genet
November 4, 2020
29 (18) :3044-3053
PMID: 32876667
PMCID: 7645713
Colarusso S, De Simone D, Frattarelli T, Andreini M, Cerretani M, Missineo A, Moretti D, Tambone S, Kempf G, Augustin M, Steinbacher S, Munoz-Sanjuan I, Park L, Summa V, Tomei L, Bresciani A, Dominguez C, Toledo-Sherman L, Bianchi E
Optimization of linear and cyclic peptide inhibitors of KEAP1-NRF2 protein-protein interaction
Bioorg Med Chem
November 1, 2020
28 (21) :115738
PMID: 33065433
Mitchell CT, Krier I, Arjomand J, Borowsky B, Tabrizi SJ, Leavitt BR, TRACK-HD Investigators, Luthi-Carter R
Longitudinal expression changes are weak correlates of disease progression in Huntington's disease
Brain Commun
October 17, 2020
2 (2) :fcaa172
PMID: 33305259
PMCID: 7713990
van der Plas E, Schultz J, Nopoulos P
The neurodevelopmental hypothesis of Huntington's disease
J Huntingtons Dis
October 8, 2020
9 (3) :217-229
PMID: 32925079
Howland D, Ellederova Z, Aronin N, Fernau D, Gallagher J, Taylor A, Hennebold J, Weiss A, Gray-Edwards H, McBride J
Large animal models of Huntington's disease: What we have learned and where we need to go next
J Huntingtons Dis
October 8, 2020
9 (3) :201-216
PMID: 32925082
Tereshchenko A, van der Plas E, Mathews KD, Epping E, Conrad AL, Langbehn DR, Nopoulos P
Developmental trajectory of height, weight, and BMI in children and adolescents at risk for Huntington's disease: Effect of mHTT on growth
J Huntingtons Dis
October 8, 2020
9 (3) :245-251
PMID: 32894247
Lu AT, Narayan P, Grant MJ, Langfelder P, Wang N, Kwak S, Wilkinson H, Chen RZ, Chen J, Simon Bawden C, Rudiger SR, Ciosi M, Chatzi A, Maxwell A, Hore TA, Aaronson J, Rosinski J, Preiss A, Vogt TF, Coppola G, Monckton D, Snell RG, William Yang X, Horvath S
DNA methylation study of Huntington's disease and motor progression in patients and in animal models
Nat Commun
September 10, 2020
11 (1) :4529
PMID: 32913184
Lee H, Fenster RJ, Pineda SS, Gibbs WS, Mohammadi S, Davila-Velderrain J, Garcia FJ, Therrien M, Novis HS, Gao F, Wilkinson H, Vogt T, Kellis M, LaVoie MJ, Heiman M
Cell type-specific transcriptomics reveals that mutant huntingtin leads to mitochondrial RNA release and neuronal innate immune activation
Neuron
September 9, 2020
107 (5) :891-908.e8
PMID: 32681824
PMCID: 7486278
Davis SM, Sousa J, Vangjeli L, Hassler MR, Echeverria D, Knox E, Turanov AA, Alterman JF, Khvorova A
2'-O-Methyl at 20-mer guide strand 3' termini may negatively affect target silencing activity of fully chemically modified siRNA
Mol Ther Nucleic Acids
September 4, 2020
21 :266-277
PMID: 32610253
PMCID: 7327867
Jung T, Shin B, Tamo G, Kim H, Vijayvargia R, Leitner A, Marcaida MJ, Astorga-Wells J, Jung R, Aebersold R, Peraro MD, Hebert H, Seong IS, Song JJ
The polyglutamine expansion at the N-terminal of huntingtin protein modulates the dynamic configuration and phosphorylation of the C-terminal HEAT domain
Structure
September 1, 2020
28 (9) :1035-1050.e8
PMID: 32668197
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease
Arch Clin Neuropsychol
September 1, 2020
35 (6) :671-682
PMID: 32407458
Hegde RN, Chiki A, Petricca L, Martufi P, Arbez N, Mouchiroud L, Auwerx J, Landles C, Bates GP, Singh-Bains MK, Dragunow M, Curtis MA, Faull RL, Ross CA, Caricasole A, Lashuel HA
TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models
EMBO J
September 1, 2020
39 (17) :e104671
PMID: 32757223
PMCID: 7459410
Wilton DK, Stevens B
The contribution of glial cells to Huntington's disease pathogenesis
Neurobiol Dis
September 1, 2020
143 :104963
PMID: 32593752
PMCID: 7433320
Lowe AJ, Sjödin S, Rodrigues FB, Byrne LM, Blennow K, Tortelli R, Zetterberg H, Wild EJ
Cerebrospinal fluid endo-lysosomal proteins as potential biomarkers for Huntington's disease
PLoS One
August 17, 2020
15 (8) :e0233820
PMID: 32804976
Liu L, Prime ME, Lee MR, Khetarpal V, Brown CJ, Johnson PD, Miranda-Azpiazu P, Chen X, Clark-Frew D, Coe S, Davis R, Dickie A, Ebneth A, Esposito S, Gadouleau E, Gai X, Galan S, Green S, Greenaway C, Giles P, Halldin C, Hayes S, Herbst T, Herrmann F, Heßmann M, Jia Z, Kiselyov A, Kotey A, Krulle T, Mangette JE, Marston RW, Menta S, Mills MR, Monteagudo E, Nag S, Nibbio M, Orsatti L, Schaertl S, …Dominguez C
Imaging mutant Huntingtin aggregates: development of a potential PET ligand
J Med Chem
August 13, 2020
63 (15) :8608-8633
PMID: 32662649
Landles C, Milton RE, Ali N, Flomen R, Flower M, Schindler F, Gomez-Paredes C, Bondulich MK, Osborne GF, Goodwin D, Salsbury G, Benn CL, Sathasivam K, Smith EJ, Tabrizi SJ, Wanker EE, Bates GP
Subcellular localization and formation of huntingtin aggregates correlates with symptom onset and progression in a Huntington's disease model
Brain Commun
August 3, 2020
2 (2) :fcaa066
PMID: 32954323
PMCID: 7425396
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
Hum Mol Genet
August 1, 2020
29 (15) :2551-2567
PMID: 32761094
PMCID: 7471505
Sun W, Zhou D, Warner JH, Langbehn DR, Hochhaus G, Wang Y
Huntington's disease progression: A population modeling approach to characterization using clinical rating scales
J Clin Pharmacol
August 1, 2020
60 (8) :1051-1060
PMID: 32416008
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
August 1, 2020
22 (4) :854-863
PMID: 31792838
PMCID: 7343737
Mullin AP, Corey D, Turner EC, Liwski R, Olson D, Burton J, Sivakumaran S, Hudson LD, Romero K, Stephenson DT, Larkindale J
Standardized data structures in rare diseases: CDISC user guides for Duchenne Muscular Dystrophy and Huntington's disease
Clin Transl Sci
July 23, 2020
PMID: 32702147
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
July 21, 2020
29 (11) :1757-1771
PMID: 30768179
PMCID: 7372552
Sharma M, Rajendrarao S, Shahani N, Ramírez-Jarquín UN, Subramaniam S
Cyclic GMP-AMP synthase promotes the inflammatory and autophagy responses in Huntington disease
Proc Natl Acad Sci USA
July 7, 2020
117 (27) :15989-15999
PMID: 32581130
Humbel M, Ramosaj M, Zimmer V, Regio S, Aeby L, Moser S, Boizot A, Sipion M, Rey M, Déglon N
Maximizing lentiviral vector gene transfer in the CNS
Gene Ther
July 6, 2020
PMID: 32632267
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM
Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects
Am J Hum Genet
July 2, 2020
107 (1) :96-110
PMID: 32589923
Nath SR, Lieberman ML, Yu Z, Marchioretti C, Jones ST, Danby ECE, Van Pelt KM, Sorarù G, Robins DM, Bates GP, Pennuto M, Lieberman AP
MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease
Acta Neuropathol
July 2, 2020
140 (1) :63-80
PMID: 32306066
PMCID: 7166004
Vas S, Casey JM, Schneider WT, Kalmar L, Morton AJ
Wake-promoting and EEG spectral effects of Modafinil after acute or chronic administration in the R6/2 mouse model of Huntington's disease
Neurotherapeutics
July 1, 2020
17 (3) :1075-1086
PMID: 32297185
PMCID: 7609772
Sapp E, Seeley C, Iuliano M, Weisman E, Vodicka P, DiFiglia M, Kegel-Gleason KB
Protein changes in synaptosomes of Huntington's disease knock-in mice are dependent on age and brain region
Neurobiol Dis
July 1, 2020
141 :104950
PMID: 32439598
Goodliffe J, Rubakovic A, Chang W, Pathak D, Luebke J
Structural and functional features of medium spiny neurons in the BACHDΔN17 mouse model of Huntington's disease
PLoS One
June 23, 2020
15 (6) :e0234394
PMID: 32574176
Kim A, García-García E, Straccia M, Comella-Bolla A, Miguez A, Masana M, Alberch J, Canals JM, Rodríguez MJ
Reduced fractalkine levels lead to striatal synaptic plasticity deficits in Huntington's disease
Front Cell Neurosci
June 18, 2020
14 :163
PMID: 32625064
PMCID: 7314984
Sap KA, Reits EA
Strategies to investigate ubiquitination in Huntington's disease
Front Chem
June 11, 2020
8 :485
PMID: 32596207
PMCID: 7300180
Chakroborty S, Manfredsson FP, Dec AM, Campbell PW, Stutzmann GE, Beaumont V, West AR
Phosphodiesterase 9A inhibition facilitates corticostriatal transmission in wild-type and transgenic rats that model Huntington's disease
Front Neurosci
June 3, 2020
14 :466
PMID: 32581668
PMCID: 7283904
Comella-Bolla A, Orlandi JG, Miguez A, Straccia M, García-Bravo M, Bombau G, Galofré M, Sanders P, Carrere J, Segovia JC, Blasi J, Allen ND, Alberch J, Soriano J, Canals JM
Human pluripotent stem cell-derived neurons are functionally mature in vitro and integrate into the mouse striatum following transplantation
Mol Neurobiol
June 1, 2020
57 (6) :2766-2798
PMID: 32356172
PMCID: 7253531
Scahill RI, Zeun P, Osborne-Crowley K, Johnson EB, Gregory S, Parker C, Lowe J, Nair A, O’Callaghan C, Langley C, Papoutsi M, McColgan P, Estevez-Fraga C, Fayer K, Wellington H, Rodrigues FB, Byrne LM, Heselgrave A, Hyare H, Sampaio C, Zetterberg H, Zhang H, Wild EJ, Rees G, Robbins TW, Sahakian BJ, Langbehn D, Tabrizi SJ
Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis
Lancet Neurol
June 1, 2020
19 (6) :502-512
PMID: 32470422
PMCID: 7254065
Wijeratne PA, Johnson EB, Eshaghi A, Aksman L, Gregory S, Johnson HJ, Poudel GR, Mohan A, Sampaio C, Georgiou-Karistianis N, Paulsen JS, Tabrizi SJ, Scahill RI, IMAGE-HD, PREDICT-HD and TRACK-HD investigators, Alexander DC
Robust markers and sample sizes for multicenter trials of Huntington disease
Ann Neurol
May 1, 2020
87 (5) :751-762
PMID: 32105364
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, …Holmans P
Genetic risk underlying psychiatric and cognitive symptoms in Huntington's disease
Biol Psychiatry
May 1, 2020
87 (9) :857-865
PMID: 32087949
PMCID: 7156911
Alexander B, Georgiou-Karistianis N, Beare R, Ahveninen LM, Lorenzetti V, Stout JC, Glikmann-Johnston Y
Accuracy of automated amygdala MRI segmentation approaches in Huntington's disease in the IMAGE-HD cohort
Hum Brain Mapp
May 1, 2020
41 (7) :1875-1888
PMID: 32034838
PMCID: 7268083
Julayanont P, Heilman KM, McFarland NR|
Early-motor phenotype relates to neuropsychiatric and cognitive disorders in Huntington's disease
Mov Disord
May 1, 2020
35 (5) :781-788
PMID: 31922295
Furlong LS, Jakabek D, Power BD, Owens-Walton C, Wilkes FA, Walterfang M, Velakoulis D, Egan G, Looi JC, Georgiou-Karistianis N
Morphometric in vivo evidence of thalamic atrophy correlated with cognitive and motor dysfunction in Huntington's disease: The IMAGE-HD stud
Psychiatry Res Neuroimaging
April 30, 2020
298 :111048
PMID: 32120305