CHDI
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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Title
Journal
Dagar S, Sharma M, Tsaprailis G, Tapia CS, Crynen G, Joshi PS, Shahani N, Subramaniam S
Ribosome profiling and mass spectrometry reveal widespread mitochondrial translation defects in a striatal cell model of Huntington disease
Vasilkovska T, Salajeghe S, Vanreusel V, Van Audekerke J, Verschuuren M, Hirschler L, Warnking J, Pintelon I, Pustina D, Cachope R, Mrzljak L, Muñoz-Sanjuan I, Barbier EL, De Vos WH, Van der Linden A, Verhoye M
Longitudinal alterations in brain perfusion and vascular reactivity in the zQ175DN mouse model of Huntington's disease
Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease
Proc Natl Acad Sci USA
April 16, 2024
121 (16) :e2322924121
121 (16) :e2322924121
PMID: 38607933
Bonsor M, Ammar O, Schnoegl S, Wanker EE, Silva Ramos E
Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
Snow ALB, Ciriegio AE, Watson KH, Pfalzer AC, Diehl S, Hale L, McDonell KE, Claassen DO, Compas BE
Stress in Huntington's disease: Characteristics and correlates in patients and at-risk individuals
Vidas-Guscic N, van Rijswijk J, Van Audekerke J, Jeurissen B, Nnah I, Tang H, Munoz-Sanjuan I, Pustina D, Cachope R, Van der Linden A, Bertoglio D, Verhoye M
Diffusion MRI marks progressive alterations in fiber integrity in the zQ175DN mouse model of Huntington's disease
Martin-Solana E, Diaz-Lopez I, Mohamedi Y, Ventoso I, Fernandez JJ, Fernandez-Fernandez MR
Progressive alterations in polysomal architecture and activation of ribosome stalling relief factors in a mouse model of Huntington's disease
En-Hua Wang J, Simon NG, Brownstein MJ, Maibach HT, Maibach J, Anderson KE
The utility of the irritability scale in Huntington's disease patients with evidence of irritability or aggression
Parkinsonism Relat Disord
March 30, 2024
123 :106087
123 :106087
PMID: 38640832
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
Proc Natl Acad Sci USA
March 26, 2024
121 (13) :e2313652121
121 (13) :e2313652121
PMID: 38498709
Delussi M, Valt C, Silvestri A, Ricci K, Ladisa E, Ammendola E, Rampino A, Pergola G, de Tommaso M
Auditory mismatch negativity in pre-manifest and manifest Huntington's disease
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
Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA, Spanish HD Collaborative Group, Monckton DG, Ramos-Arroyo MA
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
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
Aldous SG, Smith EJ, Landles C, Osborne GF, Cañibano-Pico M, Nita IM, Phillips J, Zhang Y, Jin B, Hirst MB, Benn CL, Bond BC, Edelmann W, Greene JR, Bates GP
A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease
Sampaio C
Huntington disease - Update on ongoing therapeutic developments and a look toward the future
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
Neueder A, Kojer K, Gu Z, Wang Y, Hering T, Tabrizi S, Taanman JW, Orth M
Huntington disease affects mitochondrial network dynamics predisposing to pathogenic mtDNA mutations
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