Scientific Publications

Listed here are over 1000 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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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
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
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
Di Marco A, Vignone D, Gonzalez Paz O, Fini I, Battista MR, Cellucci A, Bracacel E, Auciello G, Veneziano M, Khetarpal V, Rose M, Rosa A, Gloaguen I, Monteagudo E, Herbst T, Dominguez C, Muñoz-Sanjuán I
Establishment of an in vitro human blood-brain barrier model derived from induced pluripotent stem cells and comparison to a porcine cell-based system
April 16, 2020
9 (4) :994
PMID: 32316221
PMCID: 7226989
Ontoria JM, Biancofiore I, Fezzardi P, Ferrigno F, Torrente E, Colarusso S, Bianchi E, Andreini M, Patsilinakos A, Kempf G, Augustin M, Steinbacher S, Summa V, Pacifici R, Muñoz-Sanjuan I, Park L, Bresciani A, Dominguez C, Sherman LT, Harper S
Combined peptide and small-molecule approach toward nonacidic THIQ inhibitors of the KEAP1/NRF2 interaction
ACS Med Chem Lett
April 3, 2020
11 (5) :740-746
PMID: 32435379
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
April 3, 2020
57 (4) :2038-2047
PMID: 31912442
PMCID: 7118044
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
March 13, 2020
29 (4) :674-688
PMID: 31943010
PMCID: 7608755
Dvorzhak A, Grantyn R
Single synapse indicators of glutamate release and uptake in acute brain slices from normal and Huntington mice
J Vis Exp
March 11, 2020
PMID: 32225154
Smith-Geater C, Hernandez SJ, Lim RG, Adam M, Wu J, Stocksdale JT, Wassie BT, Gold MP, Wang KQ, Miramontes R, Kopan L, Orellana I, Joy S, Kemp PJ, Allen ND, Fraenkel E, Thompson LM
Aberrant development corrected in adult-onset Huntington's disease iPSC-derived neuronal cultures via WNT signaling modulation
Stem Cell Reports
March 10, 2020
14 (3) :406-419
PMID: 32109367
Morton AJ, Middleton B, Rudiger S, Bawden CS, Kuchel TR, Skene DJ
Increased plasma melatonin in presymptomatic Huntington disease sheep (Ovis aries): Compensatory neuroprotection in a neurodegenerative disease?
J Pineal Res
March 2, 2020
68 (2) :e12624
PMID: 31742766
Mégret L, Nair SS, Dancourt J, Aaronson J, Rosinski J, Neri C
Combining feature selection and shape analysis uncovers precise rules for miRNA regulation in Huntington's disease mice
BMC Bioinformatics
February 24, 2020
21 (1) :75
PMID: 32093602
Andrews SC, Langbehn DR, Craufurd D, Durr A, Leavitt BR, Roos RA, Tabrizi SJ, Stout JC, TRACK-HD Investigators
Apathy predicts rate of cognitive decline over 24 months in premanifest Huntington's disease
Psychol Med
February 17, 2020
PMID: 32063235
Ghavami A, Olsen M, Kwan M, Beltran J, Shea J, Ramboz S, Duan W, Lavery D, Howland D, Park LC
Transcriptional assessment of striatal mRNAs as valid biomarkers of disease progression in three mouse models of Huntington's disease
J Huntingtons Dis
February 10, 2020
9 (1) :13-31
PMID: 32007959
Messer A, Butler DC
Optimizing intracellular antibodies (intrabodies/nanobodies) to treat neurodegenerative disorders
Neurobiol Dis
February 3, 2020
134 :104619
PMID: 31669671
McAdam RL, Morton A, Gordon SL, Alterman JF, Khvorova A, Cousin MA, Smillie KJ
Loss of huntingtin function slows synaptic vesicle endocytosis in striatal neurons from the htt (Q140/Q140) mouse model of Huntington's disease
Neurobiol Dis
February 3, 2020
134 :104637
PMID: 31614197
Carlozzi NE, Boileau NR, Chou KL, Ready RE, Cella D, McCormack MK, Miner JA, Dayalu P
HDQLIFE and neuro-QoL physical function measures: Responsiveness in persons with Huntington's disease
Mov Disord
February 1, 2020
35 (2) :326-336
PMID: 31724237
PMCID: 7041888
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