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
Kang H, Vázquez FX, Zhang L, Das P, Toledo-Sherman L, Luan B, Levitt M, Zhou R
Emerging β-sheet rich conformations in supercompact Huntingtin Exon-1 mutant structures
Khakh BS, Beaumont V, Cachope R, Munoz-Sanjuan I, Goldman SA, Grantyn R
Unravelling and exploiting astrocyte dysfunction in Huntington's disease
Dominguez D JF, Poudel G, Stout JC, Gray M, Chua P, Borowsky B, Egan GF, Georgiou-Karistianis N
Longitudinal changes in the fronto-striatal network are associated with executive dysfunction and behavioral dysregulation in Huntington's disease : 30 months IMAGE-HD data
Nikan M, Osborn MF, Coles AH, Biscans A, Godinho BMDC, Haraszti RA, Sapp E, Echeverria D, DiFiglia M, Aronin N, Khvorova A
Synthesis and evaluation of parenchymal retention and efficacy of a metabolically stable O-Phosphocholine-N-docosahexaenoyl-l-serine siRNA conjugate in mouse brain
Teka WW, Hamade KC, Barnett WH, Kim T, Markin SN, Rybak IA, Molkov YI
From the motor cortex to the movement and back again
Byrne LM, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RAC, Scahill RI, Tabrizi SJ, Zetterberg H, Langbehn D, Wild EJ
Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis
Lancet Neurol
June 7, 2017
17 (30124-2) :S1474-4422
17 (30124-2) :S1474-4422
PMID: 28601473
Quinti L, Dayalan Naidu S, Träger U, Chen X, Kegel-Gleason K Llères D, Connolly C, Chopra V, Low C, Moniot S, Sapp E, Tousley AR, Vodicka P, Van Kanegan MJ, Kaltenbach LS, Crawford LA, Fuszard M, Higgins M, Miller JRC, Farmer RE, Potluri V, Samajdar S, Meisel L, Zhang N, Snyder A, Stein R, Hersch SM, Ellerby LM, Weerapana E, Schwarzschild MA, Steegborn C, Leavitt BR, Degterev A, Tabrizi SJ, Lo DC, DiFiglia M, Thompson LM, Dinkova-Kostova AT, Kazantsev AG
KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients
Proc Natl Acad Sci USA
June 6, 2017
114 (23) :E4676-E4685
114 (23) :E4676-E4685
PMID: 28533375
Park KHJ, Franciosi S, Parrant K, Lu G, Leavitt BR
p35 hemizygosity activates Akt but does not improve motor function in the YAC128 mouse model of Huntington's disease
Farina F, Lambert E, Commeau L, Lejeune FX, Roudier N, Fonte C, Parker JA, Boddaert J, Verny M, Baulieu EE, Neri C
The stress response factor daf-16 FOXO is required for multiple compound families to prolong the function of neurons with Huntington's disease
Cleary JD, Ranum LP
New developments in RAN translation: insights from multiple diseases
McColgan P, Razi A, Gregory S, Seunarine KK, Durr A, Roos ACR, Leavitt BR, Scahill RI, Clark CA, Langbehn DR, Rees G, Tabrizi SJ, Track On-HD Investigators
Structural and functional brain network correlates of depressive symptoms in premanifest Huntington's disease
Hum Brain Mapp
June 1, 2017
38 (6) :2819-2829
38 (6) :2819-2829
PMID: 28294457
PMCID: PMC5434856
DOI: 10.1002/hbm.23527
Fazio P, Schain M, Mrzljak L, Amini N, Nag S, Al-Tawil N, Fitzer-Attas CJ, Bronzova J, Landwehrmeyer B, Sampaio C, Halldin C, Varrone A
Patterns of age related changes for phosphodiesterase type-10A in comparison with dopamine D(2/3) receptors and sub-cortical volumes in the human basal ganglia: A PET study with (18)F-MNI-659 and (11)C-raclopride with correction for partial volume effect
Neueder A, Landles C, Ghosh R, Howland D, Myers RH, Faull RLM, Tabrizi SJ, Bates GP
The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients
Chiki A, DeGuire SM, Ruggeri FS, Sanfelice D, Ansaloni A, Wang ZM, Cendrowska U, Burai R, Vieweg S, Pastore A, Dietler G, Lashuel HA
Mutant exon1 Huntingtin aggregation is regulated by T3 phosphorylation-induced structural changes and crosstalk between T3 phosphorylation and acetylation at K6
HD iPSC Consortium
Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice
Martín-Ibáñez R, Guardia I, Pardo M, Herranz C, Zietlow R, Vinh NN, Rosser A, Canals JM
Insights in spatio-temporal characterization of human fetal neural stem cells
Coffey SR, Bragg RM, Minnig S, Ament SA, Cantle JP, Glickenhaus A, Shelnut D, Carrillo JM, Shuttleworth DD, Rodier JA, Noguchi K, Bennett CF, Price ND, Kordasiewicz HB, Carroll JB
Peripheral huntingtin silencing does not ameliorate central signs of disease in the B6.HttQ111/+ mouse model of Huntington's disease
Miller JRC, Pfister EL, Liu W, Andre R, Träger U, Kennington LA, Lo K, Dijkstra S, Macdonald D, Ostroff G, Aronin N, Tabrizi SJ
Allele-selective suppression of mutant Huntingtin in primary human blood cells
Zhang L, Kang H, Vázquez FX, Toledo-Sherman L, Luan B. Zhou R
Molecular mechanism of stabilizing the helical structure of Huntingtin N17 in a micellar environment
Gasset-Rosa F, Chillon-Marinas C, Goginashvili A, Atwal RS, Artates JW, Tabet R, Wheeler VC, Bang AG, Cleveland DW, Lagier-Tourenne C
Polyglutamine-expanded huntingtin exacerbates age-related disruption of nuclear integrity and nucleocytoplasmic transport
Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Papoutsi M, Mills JA, Durr A, Leavitt BR, Roos RAC, Stout JC, Scahill RI, Langbehn DR, Tabrizi SJ, Rees G
Operationalizing compensation over time in neurodegenerative disease
Häggkvist J, Tóth M, Tari L, Varnäs K, Svedberg M, Forsberg A, Nag S, Dominguez C, Munoz-Sanjuan I, Bard J, Wityak J, Varrone A, Halldin C, Mrzljak L
Longitudinal small-animal PET imaging of the zQ175 mouse model of Huntington disease shows in vivo changes of molecular targets in the striatum and cerebral cortex
Wang JKT, Langfelder P, Horvath S, Palazzolo MJ
Exosomes and homeostatic synaptic plasticity are linked to each other and to Huntington's, Parkinson's, and other neurodegenerative diseases by database-enabled analyses of comprehensively curated datasets
Kim T, Hamade KC, Todorov D, Barnett WH, Capps RA, Latash EM, Markin SN, Rybak IA, Molkov YI
Reward based motor adaptation mediated by basal ganglia
Liu JP, Zeitlin SO
Is Huntingtin dispensable in the adult brain?
J Huntingtons Dis
March 27, 2017
6 (1) :43847
6 (1) :43847
PMID: 28339401
PMCID: PMC5389021
DOI: 10.3233/JHD-170235
Hensman Moss DJ, Flower MD, Lo KK, Miller JR, van Ommen GB, ‘t Hoen PA, Stone TC, Guinee A, Langbehn DR, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease
Southwell AL, Skotte NH, Villanueva EB, Østergaard ME, Gu X, Kordasiewicz HB, Kay C, Cheung D, Xie Y, Waltl S, Dal Cengio L, Findlay-Black H, Doty CN, Petoukhov E, Iworima D, Slama R, Ooi J, Pouladi MA, Yang XW, Swayze EE, Seth PP, Hayden MR
A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles
Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, Wang K, Geman D, Carroll JB, MacDonald ME, Carlson G, Wheeler VC, Price ND, Hood LE
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds
Schultz JL, Kamholz JA, Moser DJ, Feely SM, Paulsen JS, Nopoulos PC
Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database
Yu MS, Tanese N
Huntingtin is required for neural but not cardiac/pancreatic progenitor differentiation of mouse embryonic stem cells in vitro
Long JD, Langbehn DR, Tabrizi SJ, Landwehrmeyer BG, Paulsen JS, Warner J, Sampaio C
Validation of a prognostic index for Huntington's disease
Mov Disord
February 20, 2017
32 (2) :256-263
32 (2) :256-263
PMID: 27892614
PMCID: PMC5318276
DOI: 10.1002/mds.26838
Skene DJ, Middleton B, Fraser CK, Pennings JL, Kuchel TR, Rudiger SR, Bawden CS, Morton AJ
Metabolic profiling of presymptomatic Huntington's disease sheep reveals novel biomarkers
Sci Reports
February 17, 2017
7 (43030) :43846
7 (43030) :43846
PMID: 28223686
PMCID: PMC5320451
DOI: 10.1038/srep43030
Faedo A, Laporta A, Segnali A, Galimberti M, Besusso D, Cesana E, Belloli S, Moresco RM, Tropiano M, Fucà E, Wild S, Bosio A, Vercelli AE, Biella G, Cattaneo E
Differentiation of human telencephalic progenitor cells into MSNs by inducible expression of Gsx2 and Ebf1
Shin A, Shin B, Shin JW, Kim KH, Atwal RS, Hope JM, Gillis T, Leszyk JD, Shaffer SA, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS, Lee JM
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels
Shankaran M, Di Paolo E, Leoni V, Caccia C, Ferrari Bardile C, Mohammed H, Di Donato S, Kwak S, Marchionini D, Turner S, Cattaneo E, Valenza M
Early and brain region-specific decrease of de novo cholesterol biosynthesis in Huntington's disease: A cross-validation study in Q175 knock-in mice
McColgan P, Gregory S, Razi A, Seunarine KK, Gargouri F, Durr A, Roos RA, Leavitt BR, Scahill RI, Clark CA, Tabrizi SJ, Rees G, Track On‐HD Investigators, Coleman A, Decolongon J, Fan M, Petkau T, Jauffret C, Justo D, Lehericy S, Nigaud K, Valabrègue R, Choonderbeek A, Hart EP, Hensman Moss DJ, Crawford H, Johnson E, Papoutsi M, Berna C, Reilmann R, Weber N, Stout J, Labuschagne I, Landwehrmeyer B, Orth M, Johnson H
White matter predicts functional connectivity in premanifest Huntington's disease
Ann Clin Transl Neurol
January 16, 2017
4 (2) :106-118
4 (2) :106-118
PMID: 28168210
PMCID: 5288460
DOI: 10.1002/acn3.384
Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex
Lee JK, Ding Y, Conrad AL, Cattaneo E, Epping E, Mathews K, Gonzalez-Alegre P, Cahill L, Magnotta V, Schlaggar BL, Perlmutter JS, Kim RE, Dawson JD, Nopoulos P
Sex-specific effects of the Huntington gene on normal neurodevelopment
Orth M, Gregory S, Scahill RI, Mayer IS, Minkova L, Klöppel S, Seunarine KK, Boyd L, Borowsky B, Reilmann R, Landwehrmeyer BG, Leavitt BR, Roos RA, Durr A, Rees G, Rothwell JC, Langbehn D, Tabrizi SJ, TRACK-On Investigators
Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease
Beaumont V, Zhong S, Lin H, Xu W, Bradaia A, Steidl E, Gleyzes M, Wadel K, Buisson B, Padovan-Neto FE, Chakroborty S, Ward KM, Harms JF, Beltran J, Kwan M, Ghavami A, Häggkvist J, Tóth M, Halldin C, Varrone A, Schaab C, Dybowski JN, Elschenbroich S, Lehtimäki K, Heikkinen T, Park L, Rosinski J, Mrzljak L, Lavery D, West AR, Schmidt CJ, Zaleska MM, Munoz-Sanjuan I
Phosphodiesterase 10A inhibition improves cortico-basal ganglia function in Huntington's disease models