CHDI
Listed here are over 1,075 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
Landles C, Osborne GF, Phillips J, Canibano-Pico M, Nita IM, Ali N, Bobkov K, Greene JR, Sathasivam K, Bates GP
Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays
Williams GK, Akkermans J, Lawson M, Syta P, Staelens S, Adhikari MH, Morton AJ, Nitzsche B, Boltze J, Christou C, Bertoglio D, Ahamed M
Imaging glucose metabolism and dopaminergic dysfunction in sheep (Ovis aries) brain using positron emission tomography imaging reveals abnormalities in OVT73 Huntington's disease sheep
ACS Chem Neurosci
November 6, 2024
15 (21) :4082-4091
15 (21) :4082-4091
PMID: 39420554
Mathews EW, Coffey SR, Gärtner A, Belgrad J, Bragg RM, O’Reilly D, Cantle JP, McHugh C, Summers A, Fentz J, Schwagarus T, Cornelius A, Lingos I, Burch Z, Kovalenko M, Andrew MA, Bennett FC, Kordasiewicz HB, Marchionini DM, Wilkinson H, Vogt TF, Pinto RM, Khvorova A, Howland D, Wheeler VC, Carroll JB
Suppression of Huntington's disease somatic instability by transcriptional repression and direct CAG repeat binding
Yao J, Feng B S G, Shao M S G, Mendizabal A, Telesca D, Fang K, Ibragimova L, Shoaib J, Morrison MA, Lupo JM
Interplay between sex and disease burden in Huntington's disease: Clinical and neuroimaging perspectives
Neema M, Schultz JL, Langbehn DR, Conrad AL, Epping EA, Magnotta VA, Nopoulos PC
Mutant huntingtin drives development of an advantageous brain early in life: Evidence in support of antagonistic pleiotropy
van Wamelen DJ, Martin NH, Makos O, Badenoch J, Valera-Bermejo JM, Hartmann M, Cristales AR, Wood TC, Veronese M, Moretto M, Zelaya F, dell’Acqua F, O’Daly O, Lythgoe DJ, Ginestet C, Turkheimer F, Palasits N, Mrzljak L, Warner JH, Rabiner EA, Gunn R, Tabrizi SJ, Sampaio C, Wood A, Williams SC
Study protocol for the iMarkHD study in individuals with Huntington's disease
Gray SM, Dai J, Smith AC, Beckley JT, Rahmati N, Lewis MC, Quirk MC
Changes in 24(S)-hydroxycholesterol are associated with cognitive performance in early Huntington's disease: Data from the TRACK and ENROLL HD cohorts
Park CS, Yan M, Zhu M, Akram MA, Foster NN, Bennecke A, Choi C, Marrett K, Moradi K, Zhang JY, Magat G, Nanda S, Vaca R, Wijaya K, Zablan JR, Lee S, Song C, Lara MJ, Louie M, Cong J, Kim Y, Ascoli GA, Langfelder P, Tward D, Dong HW, Yang XW
Dendritome mapping unveils spatial organization of striatal D1/D2-neuron morphology
Koriath CAM, Guntoro F, Norsworthy P, Dolzhenko E, Eberle M, Hensman Moss DJ, Flower M, Hummerich H, Rosser AE, Tabrizi SJ, Mead S, Wild EJ
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration
Vasilkovska T, Verschuuren M, Pustina D, van den Berg M, Van Audekerke J, Pintelon I, Cachope R, De Vos WH, Van der Linden A, Adhikari MH, Verhoye M
Evolution of aberrant brain-wide spatiotemporal dynamics of resting-state networks in a Huntington's disease mouse model
Kim MJ, Gibson DJ, Hu D, Yoshida T, Hueske E, Matsushima A, Mahar A, Schofield CJ, Sompolpong P, Tran KT, Tian L, Graybiel AM
Dopamine release plateau and outcome signals in dorsal striatum contrast with classic reinforcement learning formulations
Di Cecca A, Ilardi CR, Della Pia F, Criscuolo C, Della Sala S, Salvatore E
Distortion errors characterise visuo-constructive performance in Huntington's disease
Mills JA, Long JD, Vaidya JG, Gantman EC, Sathe S, Tabrizi SJ, Sampaio C
Time to functional loss as an endpoint in Huntington's disease trials: Enrichment and sample size
Guzauskas GF, Tabrizi SJ, Long JD, Arnesen A, Hamilton JL, Claassen DO, Munetsi LR, Malik S, Rodríguez-Santana I, Ali TM, Zhang F
Long-term health outcomes of Huntington disease and the impact of future disease-modifying treatments: A decision-modeling analysis
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, …Wolf NI
Framework for multistakeholder patient registries in the field of rare diseases: Focus on neurogenetic diseases
Snow ALB, Ciriegio AE, Watson KH, Baumann MG, Pfalzer AC, Diehl S, Duncan K, McDonell KE, Claassen DO, Compas BE
Coping with Huntington's disease in patients and at-risk individuals
Galimberti M, Nucera MR, Bocchi VD, Conforti P, Vezzoli E, Cereda M, Maffezzini C, Iennaco R, Scolz A, Falqui A, Cordiglieri C, Cremona M, Espuny-Camacho I, Faedo A, Felsenfeld DP, Vogt TF, Ranzani V, Zuccato C, Besusso D, Cattaneo E
Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids
Allen S, O’Reilly D, Miller R, Sapp E, Summers A, Paquette J, Echeverria Moreno D, 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
Callahan JW, Morales JC, Atherton JF, Wang D, Kostic S, Bevan MD
Movement-related increases in subthalamic activity optimize locomotion
Bragg RM, Mathews EW, Grindeland A, Cantle JP, Howland D, Vogt T, Carroll JB
Global huntingtin knockout in adult mice leads to fatal neurodegeneration that spares the pancreas
Wang N, Zhang S, Langfelder P, Ramanathan L, Plascencia M, Gao F, Vaca R, Gu X, Deng L, Dionisio LE, Prasad BC, Vogt T, Horvath S, Aaronson JS, Rosinski J, Yang XW
Msh3 and Pms1 set neuronal CAG-repeat migration rate to drive selective striatal and cortical pathogenesis in HD mice
Stanisławska-Sachadyn A, Krzemiński M, Zielonka D, Krygier M, Ziętkiewicz E, Sławek J, Limon J, REGISTRY investigators of the European Huntington’s Disease Network (EHDN)
Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats
Shirguppe S, Gapinske M, Swami D, Gosstola N, Acharya P, Miskalis A, Joulani D, Szkwarek MG, Bhattacharjee A, Elias G, Stilger M, Winter J, Woods WS, Anand D, Lim CKW, Gaj T, Perez-Pinera P
In vivo CRISPR base editing for treatment of Huntington's disease
DiFiglia M, Leavitt BR, Macdonald D, Thompson LM; Huntington’s Disease Nomenclature Working Group
Towards standardizing nomenclature in Huntington's disease research
Sampaio C, Kostyk SK, Tabrizi SJ, Rosser AE
Refining the language of Huntington's disease progression with the Huntington's Disease Integrated Staging System (HD-ISS)
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
July 2, 2024
13 (2) :201-214
13 (2) :201-214
PMID: 38640164
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
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
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