Listed here are over 1,060 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
Coleman A, Langan MT, Verma G, Knights H, Sturrock A, Leavitt BR, Tabrizi SJ, Scahill RI, Hobbs NZ
Assessment of perivascular space morphometry across the white matter in Huntington's disease using MRI
Handley RR, Reid SJ, Burch Z, Jacobsen JC, Gillis T, Correia K, Rudiger SR, McLaughlin CJ, Bawden CS, MacDonald ME, Wheeler VC, Snell RG
Somatic CAG repeat stability in a transgenic sheep model of Huntington's disease
Sun X, Liu L, Wu C, Li X, Guo J, Zhang J, Guan J, Wang N, Gu L, Yang XW, Li GM
Mutant huntingtin protein induces MLH1 degradation, DNA hyperexcision, and cGAS-STING-dependent apoptosis
Pressl C, Mätlik K, Kus L, Darnell P, Luo JD, Paul MR, Weiss AR, Liguore W, Carroll TS, Davis DA, McBride J, Heintz N
Selective vulnerability of layer 5a corticostriatal neurons in Huntington's disease
Reed TJ, Tyl MD, Tadych A, Troyanskaya OG, Cristea IM
Tapioca: a platform for predicting de novo protein-protein interactions in dynamic contexts
Mätlik K, Baffuto M, Kus L, Deshmukh AL, Davis DA, Paul MR, Carroll TS, Caron MC, Masson JY, Pearson CE, Heintz N
Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum
Sun Z, Ware J, Dey S, Eyigoz E, Sathe S, Sampaio C, Hu J
Large-scale screening of clinical assessments to distinguish between states in the Integrated HD Progression Model (IHDPM)
Bondulich MK, Phillips J, Cañibano-Pico M, Nita IM, Byrne LM, Wild EJ, Bates GP
Translatable plasma and CSF biomarkers for use in mouse models of Huntington's disease
Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM
Modification of Huntington's disease by short tandem repeats
Lee SW, Oh YM, Victor MB, Yang Y, Chen S, Strunilin I, Dahiya S, Dolle RE, Pak SC, Silverman GA, Perlmutter DH, Yoo AS
Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration
Belgrad J, Tang Q, Hildebrand S, Summers A, Sapp E, Echeverria D, O’Reilly D, Luu E, Bramato B, Allen S, Cooper D, Alterman J, Yamada K, Aronin N, DiFiglia M, Khvorova A
A programmable dual-targeting di-valent siRNA scaffold supports potent multi-gene modulation in the central nervous system
Callahan JW, Morales JC, Atherton JF, Wang D, Kostic S, Bevan MD
Movement-related increases in subthalamic activity optimize locomotion
Regio S, Vachey G, Goñi E, Duarte F, Rybarikova M, Sipion M, Rey M, Huarte M, Déglon N
Revisiting the outcome of adult wild-type Htt inactivation in the context of HTT-lowering strategies for Huntington's disease
Langbehn DR, Sathe SS, Loy C, Sampaio C, Mccusker EA
A phenotypic atlas for Huntington disease based on data from the Enroll-HD cohort study
Sun Y, Dai H, Dai X, Yin J, Cui Y, Liu X, Gonzalez G, Yuan J, Tang F, Wang N, Perlegos AE, Bonini NM, Yang XW, Gu W, Wang Y
m1A in CAG repeat RNA binds to TDP-43 and induces neurodegeneration
Wilton DK, Mastro K, Heller MD, Gergits FW, Willing CR, Fahey JB, Frouin A, Daggett A, Gu X, Kim YA, Faull RLM, Jayadev S, Yednock T, Yang XW, Stevens B
Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease
Shing K, Sapp E, Boudi A, Liu S, Seeley C, Marchionini D, DiFiglia M, Kegel-Gleason KB
Early whole-body mutant huntingtin lowering averts changes in proteins and lipids important for synapse function and white matter maintenance in the LacQ140 mouse model
McBride SD, Ober J, Dylak J, Schneider W, Morton AJ
Oculomotor abnormalities in a sheep (ovis aries) model of Huntington's disease: Towards a biomarker for assessing therapeutic efficacy
Watson KH, Ciriegio AE, Pfalzer AC, Snow A, Hale L, Diehl S, McDonell KE, Claassen DO, Compas BE
Intrapersonal and interpersonal disengagement coping: associations with emotions of youth at-risk for Huntington's disease
Sapp E, Boudi A, Reid SJ, Trombetta BA, Kivisäkk P, Taghian T, Arnold SE, Howland D, Gray-Edwards H, Kegel-Gleason KB, DiFiglia M
Levels of synaptic proteins in brain and neurofilament light chain in cerebrospinal fluid and plasma of OVT73 Huntington's disease sheep support a prodromal disease state
Cariulo C, Martufi P, Verani M, Toledo-Sherman L, Lee R, Dominguez C, Petricca L, Caricasole A
IKBKB reduces huntingtin aggregation by phosphorylating serine 13 via a non-canonical IKK pathway
Buchanan DA, Brown AE, Osigwe EC, Pfalzer AC, Mann LG, Yan Y, Kang H, Claassen DO
Racial differences in the presentation and progression of Huntington's disease
Wilkes FA, Jakabek D, Walterfang M, Velakoulis D, Poudel GR, Stout JC, Chua P, Egan GF, Looi JCL, Georgiou-Karistianis N
The shape of things to come. Mapping spatiotemporal progression of striatal morphology in Huntington disease: The IMAGE-HD study
Psychiatry Res Neuroimaging
October 1, 2023
335 :111717
335 :111717
PMID: 37751638
Bertoglio D, Weiss AR, Liguore W, Martin LD, Hobbs T, Templon J, Srinivasan S, Dominguez C, Munoz-Sanjuan I, Khetarpal V, Verhaeghe J, Staelens S, Link J, Liu L, Bard JA, McBride JL
In vivo cerebral imaging of mutant huntingtin aggregates using 11C-CHDI-180R PET in a nonhuman primate model of Huntington disease
Liu L, Malagu K, Haughan AF, Khetarpal V, Stott AJ, Esmieu W, Vater HD, Webster SJ, Van de Poël AJ, Clissold C, Cosgrove B, Sutton B, Spencer JA, Breccia P, Gancia E, Bonomo S, Ladduwahetty T, Lazari O, Patel H, Atton HC, Clifton S, Mota DM, Magnani D, O’Neill A, Stebbeds M, Macabuag N, Todd D, Herva ME, Mitchell P, Visser M, Compte Sancerni S, Grand Moursel L, da Silva M, Kritikou E,…Dominguez C
Identification and optimization of RNA-splicing modulators as huntingtin protein-lowering agents for the treatment of Huntington's disease
Bragg RM, Coffey SR, Cantle JP, Hu S, Singh S, Legg SR, McHugh CA, Toor A, Zeitlin SO, Kwak S, Howland D, Vogt TF, Monga SP, Carroll JB
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation
Alteen MG, Deme JC, Alvarez CP, Loppnau P, Hutchinson A, Seitova A, Chandrasekaran R, Silva Ramos E, Secker C, Alqazzaz M, Wanker EE, Lea SM, Arrowsmith CH, Harding RJ
Delineation of functional subdomains of huntingtin protein and their interaction with HAP40
Laundos TL, Li S, Cheang E, De Santis R, Piccolo FM, Brivanlou AH
Huntingtin CAG-expansion mutation results in a dominant negative effect
van Eimeren T, Giehl K, Reetz K, Sampaio C, Mestre TA
Neuroimaging biomarkers in Huntington's disease: Preparing for a new era of therapeutic development
Parkinsonism Relat Disord
September 1, 2023
114 :105488
114 :105488
PMID: 37407343
Wibawa P, Walterfang M, Malpas CB, Glikmann-Johnston Y, Poudel G, Razi A, Hannan AJ, Velakoulis D, Georgiou-Karistianis N
Selective perforant-pathway atrophy in Huntington disease: MRI analysis of hippocampal subfields
Oh YM, Lee SW, Yoo AS
Modeling Huntington disease through microRNA-mediated neuronal reprogramming identifies age-associated autophagy dysfunction driving the onset of neurodegeneration
Jiang A, Handley RR, Lehnert K, Snell RG
From pathogenesis to therapeutics: A review of 150 years of Huntington's disease research
Wijeratne PA, Eshaghi A, Scotton WJ, Kohli M, Aksman L, Oxtoby NP, Pustina D, Warner JH, Paulsen JS, Scahill RI, Sampaio C, Tabrizi SJ, Alexander DC
The temporal event-based model: Learning event timelines in progressive diseases
Liu CF, Younes L, Tong XJ, Hinkle JT, Wang M, Phatak S, Xu X, Bu X, Looi V, Bang J, Tabrizi SJ, Scahill RI, Paulsen JS, Georgiou-Karistianis N, Faria AV, Miller MI, Ratnanather JT, Ross CA
Longitudinal imaging highlights preferential basal ganglia circuit atrophy in Huntington's disease
Speziale R, Montesano C, Di Pietro G, Cicero DO, Summa V, Monteagudo E, Orsatti L
The urine metabolome of R6/2 and zQ175DN Huntington's disease mouse models
Hu B, Younes L, Bu X, Liu CF, Tilak Ratnanather J, Paulsen J, Georgiou-Karistianis N, Miller MI, Ross C, Faria AV
Mixed longitudinal and cross-sectional analyses of deep gray matter and white matter using diffusion weighted images in premanifest and manifest Huntington's disease
Miguez A, Gomis C, Vila C, Monguió-Tortajada M, Fernández-García S, Bombau G, Galofré M, García-Bravo M, Sanders P, Fernández-Medina H, Poquet B, Salado-Manzano C, Roura S, Alberch J, Segovia JC, Allen ND, Borràs FE, Canals JM
Soluble mutant huntingtin drives early human pathogenesis in Huntington's disease
Wilkes FA, Jakabek D, Walterfang M, Velakoulis D, Poudel GR, Stout JC, Chua P, Egan GF, Looi JCL, Georgiou-Karistianis N
Hippocampal morphology in Huntington's disease, implications for plasticity and pathogenesis: The IMAGE-HD study
Psychiatry Res Neuroimaging
August 2, 2023
335 :111694
335 :111694
PMID: 37598529
Sampaio C, Wilkinson HA
Facilitating Huntington's disease research: plasma neurofilament levels as a promising enrichment biomarker for HD-ISS stage 1
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF
PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease