CHDI
Listed here are over 1,142 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
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
June 24, 2024
52 (11) :6099-6113
52 (11) :6099-6113
PMID: 38726879
PMCID: 38726879
DOI: 10.1093/nar/gkae368
Zhang Z, Gehin C, Abriata LA, Dal Peraro M, Lashuel H
Differential effects of post-translational modifications on the membrane interaction of huntingtin protein
GeM-HD Consortium, Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects
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
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC
Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing
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
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
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
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
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
Aviner R, Lee TT, Masto VB, Li KH, Andino R, Frydman J
Polyglutamine-mediated ribotoxicity disrupts proteostasis and stress responses in 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
June 1, 2024
123 :106087
123 :106087
PMID: 38640832
Bonsor M, Ammar O, Schnoegl S, Wanker EE, Silva Ramos E
Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
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
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
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
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
Raschka T, Li Z, Gaßner H, Kohl Z, Jukic J, Marxreiter F, Fröhlich H
Unraveling progression subtypes in people with Huntington's disease
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
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
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
Vieira R, Mariani JN, Huynh NPT, Stephensen HJT, Solly R, Tate A, Schanz S, Cotrupi N, Mousaei M, Sporring J, Benraiss A, Goldman SA
Young glial progenitor cells competitively replace aged and diseased human glia in the adult chimeric mouse brain
Sampaio C
Huntington disease - Update on ongoing therapeutic developments and a look toward the future
Parkinsonism Relat Disord
May 1, 2024
122 :106049
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
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
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
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
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