Scientific Publications

Listed here are over 975 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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Ramírez-Jarquín UN, Sharma M, Shahani N, Li Y, Boregowda S, Subramaniam S
Rhes protein transits from neuron to neuron and facilitates mutant huntingtin spreading in the brain
Sci Adv
March 25, 2022
8 (12) :eabm3877
PMID: 35319973
Mohan A, Sun Z, Ghosh S, Li Y, Sathe S, Hu J, Sampaio C
A machine-learning derived Huntington's disease progression model: Insights for clinical trial design
Mov Disord
March 22, 2022
37 (3) :553-562
PMID: 34870344
Callahan JW, Wokosin DL, Bevan MD
Dysregulation of the basal ganglia indirect pathway in early symptomatic Q175 Huntington's disease mice
J Neurosci
March 9, 2022
42 (10) :2080-2102
PMID: 35058372
PMCID: 8916764
Rodrigues FB, Owen G, Sathe S, Pak E, Kaur D, Ehrhardt AG, Lifer S, Townhill J, Schubert K, Leavitt BR, Guttman M, Bang J, Lewerenz J, Levey J, HDClarity Investigators, Sampaio C, Wild EJ
Safety and feasibility of research lumbar puncture in Huntington's disease: The HDClarity cohort and bioresource
J Huntingtons Dis
March 1, 2022
11 (1) :59-69
PMID: 35253773
Bertoglio D, Bard J, Hessmann M, Liu L, Gärtner A, De Lombaerde S, Huscher B, Zajicek F, Miranda A, Peters F, Herrmann F, Schaertl S, Vasilkovska T, Brown CJ, Johnson PD, Prime ME, Mills MR, Van der Linden A, Mrzljak L, Khetarpal V, Wang Y, Marchionini DM, Skinbjerg M, Verhaeghe J, Dominguez C, Staelens S, Munoz-Sanjuan I
Development of a ligand for in vivo imaging of mutant huntingtin in Huntington's disease
Sci Transl Med
February 2, 2022
14 (630) :eabm3682
PMID: 35108063
Ramírez-Jarquín UN, Sharma M, Zhou W, Shahani N, Subramaniam S
Deletion of SUMO1 attenuates behavioral and anatomical deficits by regulating autophagic activities in Huntington disease
Proc Natl Acad Sci USA
February 1, 2022
119 (5) :e2107187119
PMID: 35086928
Iennaco R, Formenti G, Trovesi C, Rossi RL, Zuccato C, Lischetti T, Bocchi VD, Scolz A, Martínez-Labarga C, Rickards O, Pacifico M, Crottini A, Møller AP, Chen RZ, Vogt TF, Pavesi G, Horner DS, Saino N, Cattaneo E
The evolutionary history of the polyQ tract in huntingtin sheds light on its functional pro-neural activities
Cell Death Differ
February 1, 2022
29 (2) :293-305
PMID: 34974533
Hirschberg S, Dvorzhak A, Rasooli-Nejad SMA, Angelov S, Kirchner M, Mertins P, Lättig-Tünnemann G, Harms C, Schmitz D, Grantyn R
Uncoupling the excitatory amino acid transporter 2 from its C-terminal interactome restores synaptic glutamate clearance at corticostriatal synapses and alleviates mutant huntingtin-induced hypokinesia
Front Cell Neurosci
January 31, 2022
15 :792652
PMID: 35173582
PMCID: 8841566
Fote GM, Geller NR, Efstathiou N, Hendricks N, Vavvas DG, Reidling JC, Thompson LM, Steffan JS
Isoform-dependent lysosomal degradation and internalization of Apolipoprotein E requires autophagy proteins
J Cell Sci
January 25, 2022
135 (2) :jcs.258687
PMID: 34982109
Oikemus SR, Pfister E, Sapp E, Chase KO, Kennington LA, Hudgens E, Miller R, Zhu LJ, Chaudhary A, Mick EO, Sena-Esteves M, Wolfe SA, DiFiglia M, Aronin N, Brodsky MH
Allele-specific knockdown of mutant HTT protein via editing at coding region SNP heterozygosities
Hum Gene Ther
January 17, 2022
33 (1-2) :25-36
PMID: 34376056
Wang W, Zhou P, Wang X, Chen F, Christensen E, Thompson J, Ren X, Kells A, Stanek L, Carter T, Hou J, Sah DWY
Efficient and precise processing of the optimized primary artificial microRNA in a huntingtin-lowering adeno-associated viral gene therapy in vitro and in mice and nonhuman primates
Hum Gene Ther
January 10, 2022
33 (1-2) :37-60
PMID: 34806402
Zeun P, McColgan P, Dhollander T, Gregory S, Johnson EB, Papoutsi M, Nair A, Scahill RI, Rees G, Tabrizi SJ, TrackOn-HD and HD-YAS Investigators
Timing of selective basal ganglia white matter loss in premanifest Huntington's disease
Neuroimage Clin
January 6, 2022
33 :102927
PMID: 34999565
Ferreira JJ, Rodrigues FB, Duarte GS, Mestre TA, Bachoud-Levi AC, Bentivoglio AR, Burgunder JM, Cardoso F, Claassen DO, Landwehrmeyer GB, Kulisevsky J, Nirenberg MJ, Rosser A, Roth J, Seppi K, Slawek J, Furr-Stimming E, Tabrizi SJ, Walker FO, Vandenberghe W, Costa J, Sampaio C
A MDS evidence-based review on treatments for Huntington's disease
Mov Disord
January 3, 2022
37 (1) :25-35
PMID: 34842303
Pace JB, Huang NN, Séguin JP, Esquina C, Olin E, Zhu G, Carr G
Efficient and scalable production of full-length human huntingtin variants in mammalian cells using a transient expression system
J Vis Exp
December 10, 2021
178 :e63190
PMID: 34958078
Harding RJ, Deme JC, Hevler JF, Tamara S, Lemak A, Cantle JP, Szewczyk MM, Begeja N, Goss S, Zuo X, Loppnau P, Seitova A, Hutchinson A, Fan L, Truant R, Schapira M, Carroll JB, Heck AJR, Lea SM, Arrowsmith CH
Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon
Commun Biol
December 8, 2021
4 (1) :1374
PMID: 34880419
Sönmez A, Mustafa R, Ryll ST, Tuorto F, Wacheul L, Ponti D, Litke C, Hering T, Kojer K, Koch J, Pitzer C, Kirsch J, Neueder A, Kreiner G, Lafontaine DLJ, Orth M, Liss B, Parlato R
Nucleolar stress controls mutant Huntington toxicity and monitors Huntington's disease progression
Cell Death Dis
December 8, 2021
12 (12) :1139
PMID: 34880223
Yamada K, Hildebrand S, Davis SM, Miller R, Conroy F, Sapp E, Caiazzi J, Alterman JF, Roux L, Echeverria D, Hassler MR, Pfister EL, DiFiglia M, Aronin N, Khvorova A
Structurally constrained phosphonate internucleotide linkage impacts oligonucleotide-enzyme interaction, and modulates siRNA activity and allele specificity
Nucleic Acids Res
December 2, 2021
49 (21) :12069-12088
PMID: 34850120
PMCID: 8643693
Tang H, van Eimeren T, Sampaio C, Mestre TA
Validation of biomarkers in Huntington disease to support the development of disease-modifying therapies: A systematic review and critical appraisal scheme
Parkinsonism Relat Disord
December 1, 2021
93 :89-96
PMID: 34864305
Riguet N, Mahul-Mellier AL, Maharjan N, Burtscher J, Croisier M, Knott G, Hastings J, Patin A, Reiterer V, Farhan H, Nasarov S, Lashuel HA
Nuclear and cytoplasmic huntingtin inclusions exhibit distinct biochemical composition, interactome and ultrastructural properties
Nat Commun
November 12, 2021
12 (1) :6579
PMID: 34772920
Mears ER, Handley RR, Grant MJ, Reid SJ, Day BT, Rudiger SR, McLaughlan CJ, Verma PJ, Bawden SC, Patassini S, Unwin RD, Cooper GJS, Gusella JF, MacDonald ME, Brauning R, Maclean P, Pearson JF, Waldvogel HJ, Faull RLM, Snell RG
A multi-omic Huntington's disease transgenic sheep-model database for investigating disease pathogenesis
J Huntingtons Dis
November 9, 2021
10 (4) :423-434
PMID: 34420978
Chongtham A, Isas JM, Pandey NK, Rawat A, Yoo JH, Mastro T, Kennedy M, Langen R, Khoshnan A
Amplification of neurotoxic HTTex1 assemblies in human neurons
Neurobiol Dis
November 1, 2021
159 :105517
PMID: 34563643
Abeyasinghe PM, Long JD, Razi A, Pustina D, Paulsen JS, Tabrizi SJ, Poudel GR, Georgiou-Karistianis N
Tracking Huntington's disease progression using motor, functional, cognitive, and imaging markers
Mov Disord
October 25, 2021
36 (10) :2282-2292
PMID: 34014005
PMCID: 8590922
Kinnunen KM, Mullin AP, Pustina D, Turner EC, Burton J, Gordon MF, Scahill RI, Gantman EC, Noble S, Romero K, Georgiou-Karistianis N, Schwarz AJ
Recommendations to optimize the use of volumetric MRI in Huntington's disease clinical trials
Front Neurol
October 22, 2021
12 :712565
PMID: 34744964
PMCID: 8569234
Wang H, Del Mar N, Deng Y, Reiner A
Rescue of BDNF expression by the thalamic parafascicular nucleus with chronic treatment with the mGluR2/3 agonist LY379268 may contribute to the LY379268 rescue of enkephalinergic striatal projection neurons in R6/2 Huntington's disease mice
Neurosci Lett
October 15, 2021
763 :136180
PMID: 34416343
Vieweg S, Mahul-Mellier AL, Ruggeri FS, Riguet N, DeGuire SM, Chiki A, Cendrowska U, Dietler G, Lashuel HA
The Nt17 domain and its helical conformation regulate the aggregation, cellular properties and neurotoxicity of mutant huntingtin exon 1
J Mol Biol
October 15, 2021
433 (21) :167222
PMID: 34492254
Heikkinen T, Bragge T, Kuosmanen J, Parkkari T, Gustafsson S, Kwan M, Beltran J, Ghavami A, Subramaniam S, Shahani N, Ramírez-Jarquín UN, Park L, Muñoz-Sanjuán I, Marchionini DM
Global Rhes knockout in the Q175 Huntington's disease mouse model
PLoS One
October 14, 2021
16 (10) :e0258486
PMID: 34648564
PMCID: 8516231
Lemarié FL, Caron NS, Sanders SS, Schmidt ME, Nguyen YTN, Ko S, Xu X, Pouladi MA, Martin DDO, Hayden MR
Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity
Neurobiol Dis
October 1, 2021
158 :105479
PMID: 34390831
Galgoczi S, Ruzo A, Markopoulos C, Yoney A, Phan-Everson T, Li S, Haremaki T, Metzger JJ, Etoc F, Brivanlou AH
Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects
Development
October 1, 2021
148 (19) :dev199513
PMID: 34608934
PMCID: 8513611
Gusella JF, Lee JM, MacDonald ME
Huntington's disease: Nearly four decades of human molecular genetics
Hum Mol Genet
October 1, 2021
30 (20) :R254-R263
PMID: 34169318
PMCID: 8490011
Khetarpal V, Herbst T, Shefchek D, Ash S, Fitzsimmons M, Gohdes M, Munoz-Sanjuan I, Dominguez C
Pharmacokinetics and metabolic disposition of a potent and selective kynurenine monooxygenase inhibitor, CHDI-340246, in laboratory animals
Xenobiotica
October 1, 2021
51 (10) :1155-1180
PMID: 34496722
Aaronson J, Beaumont V, Blevins RA, Andreeva V, Murasheva I, Shneyderman A, Armah K, Gill R, Chen J, Rosinski J, Park LC, Coppola G, Munoz-Sanjuan I, Vogt TF
HDinHD: A rich data portal for Huntington's disease research
J Huntingtons Dis
September 29, 2021
10 (3) :405-412
PMID: 34397420
Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
Association analysis of chromosome X to identify genetic modifiers of Huntington's disease
J Huntingtons Dis
September 29, 2021
10 (3) :367-375
PMID: 34180418
Sap KA, Guler AT, Bury A, Dekkers D, Demmers JAA, Reits EA
Identification of full-length wild-type and mutant huntingtin interacting proteins by crosslinking immunoprecipitation in mice brain cortex
J Huntingtons Dis
September 29, 2021
10 (3) :335-347
PMID: 34151850
Kinnunen KM, Schwarz AJ, Turner EC, Pustina D, Gantman EC, Gordon MF, Joules R, Mullin AP, Scahill RI, Georgiou-Karistianis N, Huntington’s Disease Regulatory Science Consortium (HD-RSC)
Volumetric MRI-based biomarkers in Huntington's disease: An evidentiary review
Front Neurol
September 21, 2021
12 :712555
PMID: 34621236
PMCID: 8490802
Tabrizi SJ, Schobel S, Gantman EC, Mansbach A, Borowsky B, Konstantinova P, Mestre TA, Panagoulias J, Ross CA, Zauderer M, Mullin AP, Romero K, Sivakumaran S, Turner EC, Long JD, Sampaio C, Huntington’s Disease Regulatory Science Consortium (HD-RSC)
Huntington's disease Integrated Staging System (HD-ISS): A novel evidence-based classification system for staging
medRxiv
September 11, 2021
:21262503
Herrmann F, Hessmann M, Schaertl S, Berg-Rosseburg K, Brown CJ, Bursow G, Chiki A, Ebneth A, Gehrmann M, Hoeschen N, Hotze M, Jahn S, Johnson PD, Khetarpal V, Kiselyov A, Kottig K, Ladewig S, Lashuel H, Letschert S, Mills MR, Petersen K, Prime ME, Scheich C, Schmiedel G, Wityak J, Liu L, Dominguez C, Muñoz-Sanjuán I, Bard JA
Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates
Sci Rep
September 9, 2021
11 (1) :17977
PMID: 34504195
van Duijn E, Fernandes AR, Abreu D, Ware JJ, Neacy E, Sampaio C
Incidence of completed suicide and suicide attempts in a global prospective study of Huntington's disease
BJPsych Open
August 31, 2021
7 (5) :e158
PMID: 34462049
Goold R, Hamilton J, Menneteau T, Flower M, Bunting EL, Aldous SG, Porro A, Vicente JR, Allen ND, Wilkinson H, Bates GP, Sartori AA, Thalassinos K, Balmus G, Tabrizi SJ
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease
Cell Rep
August 31, 2021
36 (9) :109649
PMID: 34469738
Liu L, Johnson PD, Prime ME, Khetarpal V, Lee MR, Brown CJ, Chen X, Clark-Frew D, Coe S, Conlon M, Davis R, Ensor S, Esposito S, Moren AF, Gai X, Green S, Greenaway C, Haber J, Halldin C, Hayes S, Herbst T, Herrmann F, Heßmann M, Hsai MM, Kotey A, Mangette JE, Mills MR, Monteagudo E, Nag S, Nibbio M, Orsatti L, Schaertl S, …Dominguez C
[11C]CHDI-626, a PET tracer candidate for imaging mutant huntingtin aggregates with reduced binding to AD pathological proteins
J Med Chem
August 26, 2021
64 (16) :12003-12021
PMID: 34351166
Lunven M, Hamet Bagnou J, Youssov K, Gabadinho A, Fliss R, Montillot J, Audureau E, Bapst B, Morgado G, Reilmann R, Schubert R, Busse M, Craufurd D, Massart R, Rosser A, Bachoud-Lévi AC
Cognitive decline in Huntington's disease in the Digitalized Arithmetic Task (DAT)
PLoS One
August 23, 2021
16 (8) :e0253064
PMID: 34424902
PMCID: 8382187