Scientific Publications

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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Choi DE, Shin JW, Zeng S, Hong EP, Jang JH, Loupe JM, Wheeler VC, Stutzman HE, Kleinstiver B, Lee JM
Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease
Elife
June 13, 2024
12 :RP89782
PMID: 38869243
Ferguson R, Goold R, Coupland L, Flower M, Tabrizi SJ
Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease
Am J Hum Genet
June 6, 2024
111 (6) :1165-1183
PMID: 38749429
Martin-Solana E, Casado-Zueras L, Torres TE, Goya GF, Fernandez-Fernandez MR, Fernandez JJ
Disruption of the mitochondrial network in a mouse model of Huntington's disease visualized by in-tissue multiscale 3D electron microscopy
Acta Neuropathol Commun
June 5, 2024
12 (1) :88
PMID: 38840253
Dickmann CGF, Milicevic Sephton S, Barker RA, Aigbirhio FI
PET ligands for imaging mutant huntingtin aggregates: A case study in non-for-profit scientific management
Chembiochem
June 3, 2024
25 (11) :e202400152
PMID: 38695673
Brady ST, Mesnard-Hoaglin NA, Priego M, Dziechciowska J, Morris S, Kang M, Tsai MY, Purks JL, Klein A, Gaona A, Melloni A, Connors T, Hyman B, Song Y, Morfini GA
Toxic effects of mutant huntingtin in axons are mediated by its proline-rich domain
Brain
June 3, 2024
147 (6) :2098-2113
PMID: 37633260
PMCID: 11146425
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
Brain
June 3, 2024
147 (6) :2009-2022
PMID: 38195181
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
June 1, 2024
123 :106087
PMID: 38640832
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
Neurobiol Dis
June 1, 2024
195 :106488
PMID: 38565397
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
Clin Neurophysiol
June 1, 2024
162 :121-128
PMID: 38603947
Berg MJ, Veeranna, Rosa CM, Kumar A, Mohan PS, Stavrides P, Marchionini DM, Yang DS, Nixon RA
Pathobiology of the autophagy-lysosomal pathway in the Huntington's disease brain
BioRxiv [Preprint]
May 30, 2024
PMID: 38854113
PMCID: 11160756
Stavrides P, Goulbourne CN, Peddy J, Huo C, Rao M, Khetarpal V, Marchionini DM, Nixon RA, Yang DS
mTOR inhibition in Q175 Huntington's disease model mice facilitates neuronal autophagy and mutant huntingtin clearance
BioRxiv [Preprint]
May 30, 2024
PMID: 38854023
PMCID: 11160779
Aviner R, Lee TT, Masto VB, Li KH, Andino R, Frydman J
Polyglutamine-mediated ribotoxicity disrupts proteostasis and stress responses in Huntington's disease
Nat Cell Biol
May 13, 2024
PMID: 38741019
Ryu J, Statz JP, Chan W, Oyama K, Custer M, Wienisch M, Chen R, Hanna CB, Hennebold JD
Generation of rhesus macaque embryos with expanded CAG trinucleotide repeats in the huntingtin gene
Cells
May 13, 2024
13 (10) :829
PMID: 38786052
PMCID: 11119628
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 siRNA scaffold supports potent two-gene modulation in the central nervous system
Nucleic Acids Res
May 10, 2024
PMID: 38726879
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
Brain
May 3, 2024
147 (5) :1784-1798
PMID: 38387080
PMCID: 11068328
Barrett MJ, Negida A, Mukhopadhyay N, Kim JK, Nawaz H, Jose J, Testa C
Optimizing screening for intrastriatal interventions in Huntington's disease using predictive models
Mov Disord
May 1, 2024
39 (5) :855-862
PMID: 38465778
Sampaio C
Huntington disease - Update on ongoing therapeutic developments and a look toward the future
Parkinsonism Relat Disord
May 1, 2024
122 :106049
PMID: 38418319
Allen S, O’Reilly D, Miller R, Sapp E, Summers A, Paquette J, Moreno DE, Bramato B, McHugh N, Yamada K, Aronin N, DiFiglia M, Khvorova A
mRNA nuclear clustering leads to a difference in mutant huntingtin mRNA and protein silencing by siRNAs in vivo
BioRxiv [Preprint]
April 28, 2024
PMID: 38774633
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
Mol Cell Proteomics
April 19, 2024
23 (4) :100746
PMID: 38447791
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
J Biomed Sci
April 16, 2024
31 (1) :37
PMID: 38627751
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
PMID: 38607933
Geijtenbeek KW, Aranda AS, Sanz AS, Janzen J, Bury AE, Kors S, Al Amery N, Schmitz NCM, Reits EAJ, Schipper-Krom S
Insulin-degrading enzyme efficiently degrades polyQ peptides but not expanded polyQ huntingtin fragments
J Huntingtons Dis
April 16, 2024
PMID: 38640164
Bonsor M, Ammar O, Schnoegl S, Wanker EE, Silva Ramos E
Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
Proteomics
April 14, 2024
PMID: 38615323
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Kovalenko M, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Mouro Pinto R, Gusella JF
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat
Nat Commun
April 12, 2024
15 (1) :3182
PMID: 38609352
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
J Huntingtons Dis
April 3, 2024
PMID: 38578897
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
Neurobiol Dis
April 1, 2024
193 :106438
PMID: 38365045
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
J Huntingtons Dis
March 29, 2024
13 (1) :91-101
PMID: 38517798
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
J Huntingtons Dis
March 29, 2024
13 (1) :33-40
PMID: 38393920
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
PMID: 38498709
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
Neuron
March 20, 2024
112 (6) :924-941.e10
PMID: 38237588
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
Eur J Hum Genet
March 4, 2024
PMID: 38433266
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
Nat Genet
March 1, 2024
56 (3) :383-394
PMID: 38291334
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)
Front Aging Neurosci
February 13, 2024
16 :1320755
PMID: 38414632
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
Brain Commun
February 7, 2024
6 (1) :fcae030
PMID: 38370446
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
Brain Commun
January 23, 2024
6 (2) :fcae016
PMID: 38449714
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
BioRxiv [Preprint]
December 19, 2023
PMID: 38187561
Callahan JW, Morales JC, Atherton JF, Wang D, Kostic S, Bevan MD
Movement-related increases in subthalamic activity optimize locomotion
BioRxiv [Preprint]
December 8, 2023
PMID: 38105984
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
Brain Commun
December 7, 2023
5 (6) :fcad344
PMID: 38116140
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
Neurol Genet
December 1, 2023
9 (6) :e200111
PMID: 38035176
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
Nature
November 16, 2023
623 (7987) :580-587
PMID: 37938769