CHDI
Listed here are over 900 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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Title
Journal
Callahan JW, Wokosin DL, Bevan MD
Dysregulation of the basal ganglia indirect pathway in early symptomatic Q175 Huntington's disease mice
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
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
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
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
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
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
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
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
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
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
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
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
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
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
49 (21) :12069-12088
PMID: 34850120
PMCID: 8643693
DOI: 10.1093/nar/gkab1126
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
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
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
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
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
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
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
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
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
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
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
148 (19) :dev199513
PMID: 34608934
PMCID: 8513611
DOI: 10.1242/dev.199513
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
30 (20) :R254-R263
PMID: 34169318
PMCID: 8490011
DOI: 10.1093/hmg/ddab170
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
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
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
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
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
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
: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
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
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
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
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)
Sathe S, Ware J, Levey J, Neacy E, Blumenstein R, Noble S, Mühlbäck A, Rosser A, Landwehrmeyer GB, Sampaio C
Enroll-HD: An integrated clinical research platform and worldwide observational study for Huntington's disease
Schulze-Krebs A, Canneva F, Stemick J, Plank AC, Harrer J, Bates GP, Aeschlimann D, Steffan JS, von Hörsten S
Transglutaminase 6 is colocalized and interacts with mutant huntingtin in Huntington disease rodent animal models