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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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
Cells
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
157
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
Julayanont P, McFarland NR, Heilman KM
Mild cognitive impairment and dementia in motor manifest Huntington's disease: Classification and prevalence
J Neurol Sci
January 15, 2020
408 :116523
PMID: 31678902
Cariulo C, Verani M, Martufi P, Ingenito R, Finotto M, Deguire SM, Lavery DJ, Toledo-Sherman L, Lee R, Doherty EM, Vogt TF, Dominguez C, Lashuel HA, Petricca L, Caricasole A
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13
Biochem Biophys Res Commun
January 15, 2020
521 (3) :549-554
PMID: 31677786
Pflanz CP, Charquero-Ballester M, Majid DSA, Winkler AM, Vallée E, Aron AR, Jenkinson M, Douaud G
One-year changes in brain microstructure differentiate preclinical Huntington's disease stages
Neuroimage Clin
January 6, 2020
25 :102099
PMID: 31865023
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
January 1, 2020
36 (1) :186-196
PMID: 31228193
PMCID: 6956776
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
December 17, 2019
29 (11) :4763-4774
PMID: 30753343
PMCID: 7150618
Aviolat H, Pinto RM, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason KB, DiFiglia M
Assessing average somatic CAG repeat instability at the protein level
Sci Rep
December 16, 2019
9 (1) :19152
PMID: 31844074
Chandra A, Valkimadi PE, Pagano G, Cousins O, Dervenoulas G, Politis M, Alzheimer’s Disease Neuroimaging Initiative
Applications of amyloid, tau, and neuroinflammation PET imaging to Alzheimer's disease and mild cognitive impairment
Hum Brain Mapp
December 15, 2019
40 (18) :5424-5442
PMID: 31520513
Ardan T, Baxa M, Levinská B, Sedláčková M, Nguyen TD, Klíma J, Juhás Š, Juhásová J, Šmatlíková P, Vochozková P, Motlík J, Ellederová Z
Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
Dis Model Mech
December 12, 2019
13 (2) :dmm041319
PMID: 31645369
PMCID: PMC6918760
Ouk K, Aungier J, Ware M, Morton AJ
Abnormal photic entrainment to phase-delaying stimuli in the R6/2 mouse model of Huntington's disease, despite retinal responsiveness to light
eNeuro
December 10, 2019
6 (6) :ENEURO.0088-19.2019
PMID: 31744839
PMCID: 6905640
Estrada-Sánchez AM, Blake CL, Barton SJ, Howe AG, Rebec GV
Lack of mutant huntingtin in cortical efferents improves behavioral inflexibility and corticostriatal dynamics in Huntington's disease mice
J Neurophysiol
December 2, 2019
122 (6) :2621-2629
PMID: 31693428
PMCID: PMC6966319
Smarr B, Cutler T, Loh DH, Kudo T, Kuljis D, Kriegsfeld L, Ghiani CA, Colwell CS
Circadian dysfunction in the Q175 model of Huntington's disease: Network analysis
J Neurosci Res
December 2, 2019
97 (12) :1606-1623
PMID: 31359503
Carlozzi NE, Schilling SG, Boileau NR, Chou KL, Perlmutter JS, Frank S, McCormack MK, Stout JC, Paulsen JS, Lai JS, Dayalu P
How different aspects of motor dysfunction influence day-to-day function in Huntington's disease
Mov Disord
December 1, 2019
34 (12) :1910-1914
PMID: 31609508
PMCID: 7025393
Papadopoulou AS, Gomez-Paredes C, Mason MA, Taxy BA, Howland D, Bates GP
Extensive expression analysis of Htt transcripts in brain regions from the zQ175 HD mouse model using a QuantiGene multiplex assay
Sci Rep
November 6, 2019
9 (1) :16137
PMID: 31695145
Irvine EE, Katsouri L, Plattner F, Al-Qassab H, Al-Nackkash R, Bates GP, Withers DJ
Genetic deletion of S6k1 does not rescue the phenotypic deficits observed in the R6/2 mouse model of Huntington's disease
Sci Rep
November 6, 2019
9 (1) :16133
PMID: 31695068
PMCID: PMC6834565
Marottoli FM, Priego M, Flores-Barrera E, Pisharody R, Zaldua S, Fan KD, Ekkurthi GK, Brady ST, Morfini GA, Tseng KY, Tai LM
EGF treatment improves motor behavior and cortical GABAergic function in the R6/2 mouse model of Huntington's disease
Mol Neurobiol
November 5, 2019
56 (11) :7708-7718
PMID: 31104296
PMCID: PMC6815691
Gregory S, Odish OFF, Mayer I, Mills J, Johnson EB, Scahill RI, Rothwell J, Rees G, Long JD, Tabrizi SJ, Roos RAC, Orth M
Multimodal characterization of the visual network in Huntington's disease gene carriers
Clin Neurophysiol
November 1, 2019
130 (11) :2053-2059
PMID: 31541982
Ciosi M, Maxwell A, Cumming SA, Hensman Moss DJ, Alshammari AM, Flower MD, Durr A, Leavitt BR, Roos RAC, TRACK-HD team, Enroll-HD team Holmans P, Jones L, Langbehn DR, Kwak S, Tabrizi SJ, Monckton DG
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
EBioMedicine
October 30, 2019
48 :568-580
PMID: 31607598
Diaz-Castro B, Gangwani MR, Yu X, Coppola G, Khakh BS
Astrocyte molecular signatures in Huntington's disease
Sci Transl Med
October 16, 2019
11 (514) :eaaw8546
PMID: 31619545
Haremaki T, Metzger JJ, Rito T, Ozair MZ, Etoc F, Brivanlou AH
Self-organizing neuruloids model developmental aspects of Huntington's disease in the ectodermal compartment
Nat Biotechnol
October 11, 2019
37 (10) :1198-1208
PMID: 31501559
Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM
Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA
J Hum Genet
October 1, 2019
64 (10) :995-1004
PMID: 31296921
Poudel GR, Harding IH, Egan GF, Georgiou-Karistianis N
Network spread determines severity of degeneration and disconnection in Huntington's disease
Hum Brain Mapp
October 1, 2019
40 (14) :4192-4201
PMID: 31187915
PMCID: 6865500
Sap KA, Guler AT, Bezstarosti K, Bury AE, Juenemann K, Demmers JAA, Reits EA
Global proteome and ubiquitinome changes in the soluble and insoluble fractions of Q175 Huntington mice brains
Mol Cell Proteomics
September 30, 2019
18 (9) :1705-1720
PMID: 31138642
PMCID: PMC6731087
Khakh BS
Astrocyte-neuron interactions in the striatum: insights on identity, form, and function
Trends Neurosci
September 4, 2019
42 (9) :617-630
PMID: 31351745