CHDI
Listed here are over 500 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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Journal
Friedman A, Hueske E, Drammis SM, Toro Arana SE, Nelson ED, Carter CW, Delcasso S, Rodriguez RX, Lutwak H, DiMarco KS, Zhang Q, Rakocevic LI, Hu D, Xiong JK, Zhao J, Gibb LG, Yoshida T, Siciliano CA, Diefenbach TJ, Ramakrishnan C, Deisseroth K, Graybiel AM
Striosomes mediate value-based learning vulnerable in age and a Huntington's disease model
Bertoglio D, Verhaeghe J, Miranda A, Wyffels L, Stroobants S, Dominguez C, Munoz-Sanjuan I, Skinbjerg M, Liu L, Staelens S
Kinetic modelling and test-retest reproducibility for the dopamine D1R radioligand [11C]SCH23390 in healthy and diseased mice
Colarusso S, De Simone D, Frattarelli T, Andreini M, Cerretani M, Missineo A, Moretti D, Tambone S, Kempf G, Augustin M, Steinbacher S, Munoz-Sanjuan I, Park L, Summa V, Tomei L, Bresciani A, Dominguez C, Toledo-Sherman L, Bianchi E
Optimization of linear and cyclic peptide inhibitors of KEAP1-NRF2 protein-protein interaction
Moretti D, Tambone S, Cerretani M, Fezzardi P, Missineo A, Sherman LT, Munoz-Sajuan I, Harper S, Dominquez C, Pacifici R, Tomei L, Park L, Bresciani A
NRF2 activation by reversible KEAP1 binding induces the antioxidant response in primary neurons and astrocytes of a Huntington's disease mouse model
Yu X, Nagai J, Marti-Solano M, Soto JS, Coppola G, Babu MM, Khakh BS
Context-specific striatal astrocyte molecular responses are phenotypically exploitable
van der Plas E, Schultz J, Nopoulos P
The neurodevelopmental hypothesis of Huntington's disease
Howland D, Ellederova Z, Aronin N, Fernau D, Gallagher J, Taylor A, Hennebold J, Weiss A, Gray-Edwards H, McBride J
Large animal models of Huntington's disease: What we have learned and where we need to go next
Tereshchenko A, van der Plas E, Mathews KD, Epping E, Conrad AL, Langbehn DR, Nopoulos P
Developmental trajectory of height, weight, and BMI in children and adolescents at risk for Huntington's disease: Effect of mHTT on growth
Besusso D, Cossu A, Mohamed A, Cernigoj M, Codega P, Galimberti M, Campus I, Conforti P, Cattaneo E
A CRISPR-strategy for the generation of a detectable fluorescent hESC reporter line (WAe009-A-37) for the subpallial determinant GSX2
Lu AT, Narayan P, Grant MJ, Langfelder P, Wang N, Kwak S, Wilkinson H, Chen RZ, Chen J, Simon Bawden C, Rudiger SR, Ciosi M, Chatzi A, Maxwell A, Hore TA, Aaronson J, Rosinski J, Preiss A, Vogt TF, Coppola G, Monckton D, Snell RG, William Yang X, Horvath S
DNA methylation study of Huntington's disease and motor progression in patients and in animal models
Lee H, Fenster RJ, Pineda SS, Gibbs WS, Mohammadi S, Davila-Velderrain J, Garcia FJ, Therrien M, Novis HS, Gao F, Wilkinson H, Vogt T, Kellis M, LaVoie MJ, Heiman M
Cell type-specific transcriptomics reveals that mutant huntingtin leads to mitochondrial RNA release and neuronal innate immune activation
Davis SM, Sousa J, Vangjeli L, Hassler MR, Echeverria D, Knox E, Turanov AA, Alterman JF, Khvorova A
2'-O-Methyl at 20-mer guide strand 3' termini may negatively affect target silencing activity of fully chemically modified siRNA
Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out
Jung T, Shin B, Tamo G, Kim H, Vijayvargia R, Leitner A, Marcaida MJ, Astorga-Wells J, Jung R, Aebersold R, Peraro MD, Hebert H, Seong IS, Song JJ
The polyglutamine expansion at the N-terminal of huntingtin protein modulates the dynamic configuration and phosphorylation of the C-terminal HEAT domain
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease
Wilton DK, Stevens B
The contribution of glial cells to Huntington's disease pathogenesis
Carlozzi NE, Boileau NR, Roché MW, Ready RE, Perlmutter JS, Chou KL, Barton SK, McCormack MK, Stout JC, Cella D, Miner JA, Paulsen JS
Responsiveness to change over time and test-retest reliability of the PROMIS and Neuro-QoL mental health measures in persons with Huntington disease (HD)
Chiki A, Ricci J, Hegde R, Abriata LA, Reif A, Boudeffa D, Lashuel HA
Site-specific phosphorylation of Huntingtin exon 1 recombinant proteins enabled by the discovery of novel kinases
Lowe AJ, Sjödin S, Rodrigues FB, Byrne LM, Blennow K, Tortelli R, Zetterberg H, Wild EJ
Cerebrospinal fluid endo-lysosomal proteins as potential biomarkers for Huntington's disease
Liu L, Prime ME, Lee MR, Khetarpal V, Brown CJ, Johnson PD, Miranda-Azpiazu P, Chen X, Clark-Frew D, Coe S, Davis R, Dickie A, Ebneth A, Esposito S, Gadouleau E, Gai X, Galan S, Green S, Greenaway C, Giles P, Halldin C, Hayes S, Herbst T, Herrmann F, Heßmann M, Jia Z, Kiselyov A, Kotey A, Krulle T, Mangette JE, Marston RW, Menta S, Mills MR, Monteagudo E, Nag S, Nibbio M, Orsatti L, Schaertl S, …Dominguez C
Imaging mutant Huntingtin aggregates: development of a potential PET ligand
Hegde RN, Chiki A, Petricca L, Martufi P, Arbez N, Mouchiroud L, Auwerx J, Landles C, Bates GP, Singh-Bains MK, Dragunow M, Curtis MA, Faull RL, Ross CA, Caricasole A, Lashuel HA
TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models
Landles C, Milton RE, Ali N, Flomen R, Flower M, Schindler F, Gomez-Paredes C, Bondulich MK, Osborne GF, Goodwin D, Salsbury G, Benn CL, Sathasivam K, Smith EJ, Tabrizi SJ, Wanker EE, Bates GP
Subcellular localization and formation of huntingtin aggregates correlates with symptom onset and progression in a Huntington's disease model
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
Hum Mol Genet
August 1, 2020
29 (15) :2551-2567
29 (15) :2551-2567
PMID: 32761094
PMCID: 7471505
DOI: 10.1093/hmg/ddaa139
Sun W, Zhou D, Warner JH, Langbehn DR, Hochhaus G, Wang Y
Huntington's disease progression: A population modeling approach to characterization using clinical rating scales
Mullin AP, Corey D, Turner EC, Liwski R, Olson D, Burton J, Sivakumaran S, Hudson LD, Romero K, Stephenson DT, Larkindale J
Standardized data structures in rare diseases: CDISC user guides for Duchenne Muscular Dystrophy and Huntington's disease
Sharma M, Rajendrarao S, Shahani N, Ramírez-Jarquín UN, Subramaniam S
Cyclic GMP-AMP synthase promotes the inflammatory and autophagy responses in Huntington disease
Proc Natl Acad Sci USA
July 7, 2020
117 (27) :15989-15999
117 (27) :15989-15999
PMID: 32581130
Humbel M, Ramosaj M, Zimmer V, Regio S, Aeby L, Moser S, Boizot A, Sipion M, Rey M, Déglon N
Maximizing lentiviral vector gene transfer in the CNS
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM
Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects
Sapp E, Seeley C, Iuliano M, Weisman E, Vodicka P, DiFiglia M, Kegel-Gleason KB
Protein changes in synaptosomes of Huntington's disease knock-in mice are dependent on age and brain region
Cachope R, Pereda AE
Regulatory roles of metabotropic glutamate receptors on synaptic communication mediated by gap junctions
Goodliffe J, Rubakovic A, Chang W, Pathak D, Luebke J
Structural and functional features of medium spiny neurons in the BACHDΔN17 mouse model of Huntington's disease
Kim A, García-García E, Straccia M, Comella-Bolla A, Miguez A, Masana M, Alberch J, Canals JM, Rodríguez MJ
Reduced fractalkine levels lead to striatal synaptic plasticity deficits in Huntington's disease
Sap KA, Reits EA
Strategies to investigate ubiquitination in Huntington's disease
Chakroborty S, Manfredsson FP, Dec AM, Campbell PW, Stutzmann GE, Beaumont V, West AR
Phosphodiesterase 9A inhibition facilitates corticostriatal transmission in wild-type and transgenic rats that model Huntington's disease
Comella-Bolla A, Orlandi JG, Miguez A, Straccia M, García-Bravo M, Bombau G, Galofré M, Sanders P, Carrere J, Segovia JC, Blasi J, Allen ND, Alberch J, Soriano J, Canals JM
Human pluripotent stem cell-derived neurons are functionally mature in vitro and integrate into the mouse striatum following transplantation
Scahill RI, Zeun P, Osborne-Crowley K, Johnson EB, Gregory S, Parker C, Lowe J, Nair A, O’Callaghan C, Langley C, Papoutsi M, McColgan P, Estevez-Fraga C, Fayer K, Wellington H, Rodrigues FB, Byrne LM, Heselgrave A, Hyare H, Sampaio C, Zetterberg H, Zhang H, Wild EJ, Rees G, Robbins TW, Sahakian BJ, Langbehn D, Tabrizi SJ
Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis
Wijeratne PA, Johnson EB, Eshaghi A, Aksman L, Gregory S, Johnson HJ, Poudel GR, Mohan A, Sampaio C, Georgiou-Karistianis N, Paulsen JS, Tabrizi SJ, Scahill RI, IMAGE-HD, PREDICT-HD and TRACK-HD investigators, Alexander DC
Robust markers and sample sizes for multicenter trials of Huntington disease
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, …Holmans P
Genetic risk underlying psychiatric and cognitive symptoms in Huntington's disease
Furlong LS, Jakabek D, Power BD, Owens-Walton C, Wilkes FA, Walterfang M, Velakoulis D, Egan G, Looi JC, Georgiou-Karistianis N
Morphometric in vivo evidence of thalamic atrophy correlated with cognitive and motor dysfunction in Huntington's disease: The IMAGE-HD stud
Psychiatry Res Neuroimaging
April 30, 2020
298 :111048
298 :111048
PMID: 32120305
Nath SR, Lieberman ML, Yu Z, Marchioretti C, Jones ST, Danby ECE, Van Pelt KM, Sorarù G, Robins DM, Bates GP, Pennuto M, Lieberman AP
MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease