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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Title
Journal
Wilton DK, Stevens B
The contribution of glial cells to Huntington's disease pathogenesis
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
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
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
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease
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
Di Marco A, Vignone D, Gonzalez Paz O, Fini I, Battista MR, Cellucci A, Bracacel E, Auciello G, Veneziano M, Khetarpal V, Rose M, Rosa A, Gloaguen I, Monteagudo E, Herbst T, Dominguez C, Muñoz-Sanjuán I
Establishment of an in vitro human blood-brain barrier model derived from induced pluripotent stem cells and comparison to a porcine cell-based system
Vas S, Casey JM, Schneider WT, Kalmar L, Morton AJ
Wake-promoting and EEG spectral effects of Modafinil after acute or chronic administration in the R6/2 mouse model of Huntington's disease
Ontoria JM, Biancofiore I, Fezzardi P, Ferrigno F, Torrente E, Colarusso S, Bianchi E, Andreini M, Patsilinakos A, Kempf G, Augustin M, Steinbacher S, Summa V, Pacifici R, Muñoz-Sanjuan I, Park L, Bresciani A, Dominguez C, Sherman LT, Harper S
Combined peptide and small-molecule approach toward nonacidic THIQ inhibitors of the KEAP1/NRF2 interaction
Dvorzhak A, Grantyn R
Single synapse indicators of glutamate release and uptake in acute brain slices from normal and Huntington mice
Smith-Geater C, Hernandez SJ, Lim RG, Adam M, Wu J, Stocksdale JT, Wassie BT, Gold MP, Wang KQ, Miramontes R, Kopan L, Orellana I, Joy S, Kemp PJ, Allen ND, Fraenkel E, Thompson LM
Aberrant development corrected in adult-onset Huntington's disease iPSC-derived neuronal cultures via WNT signaling modulation
Morton AJ, Middleton B, Rudiger S, Bawden CS, Kuchel TR, Skene DJ
Increased plasma melatonin in presymptomatic Huntington disease sheep (Ovis aries): Compensatory neuroprotection in a neurodegenerative disease?
Mégret L, Nair SS, Dancourt J, Aaronson J, Rosinski J, Neri C
Combining feature selection and shape analysis uncovers precise rules for miRNA regulation in Huntington's disease mice
Ghavami A, Olsen M, Kwan M, Beltran J, Shea J, Ramboz S, Duan W, Lavery D, Howland D, Park LC
Transcriptional assessment of striatal mRNAs as valid biomarkers of disease progression in three mouse models of Huntington's disease
Alexander B, Georgiou-Karistianis N, Beare R, Ahveninen LM, Lorenzetti V, Stout JC, Glikmann-Johnston Y
Accuracy of automated amygdala MRI segmentation approaches in Huntington's disease in the IMAGE-HD cohort
Messer A, Butler DC
Optimizing intracellular antibodies (intrabodies/nanobodies) to treat neurodegenerative disorders
McAdam RL, Morton A, Gordon SL, Alterman JF, Khvorova A, Cousin MA, Smillie KJ
Loss of huntingtin function slows synaptic vesicle endocytosis in striatal neurons from the htt (Q140/Q140) mouse model of Huntington's disease
Batista AR, King OD, Reardon CP, Davis C, Shankaracharya, Philip V, Gray-Edwards H, Aronin N, Lutz C, Landers J, Sena-Esteves M
Ly6a differential expression in blood-brain barrier is responsible for strain specific central nervous system transduction profile of AAV-PHP.B.
Polosecki P, Castro E, Rish I, Pustina D, Warner JH, Wood A, Sampaio C, Cecchi GA
Resting-state connectivity stratifies premanifest Huntington's disease by longitudinal cognitive decline rate
Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A, PEARL-HD and LONGPDE10 collaborators
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Kedaigle AJ, Reidling JC, Lim RG, Adam M, Wu J, Wassie B, Stocksdale JT, Casale MS, Fraenkel E, Thompson LM
Treatment with JQ1, a BET bromodomain inhibitor, is selectively detrimental to R6/2 Huntington's disease mice
Chongtham A, Bornemann DJ, Barbaro BA, Lukacsovich T, Agrawal N, Syed A, Worthge S, Purcell J, Burke J, Chin TM, Marsh JL
Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT
Julayanont P, McFarland NR, Heilman KM
Mild cognitive impairment and dementia in motor manifest Huntington's disease: Classification and prevalence
Cariulo C, Verani M, Martufi P, Ingenito R, Finotto M, Deguire SM, Lavery DJ, Toledo-Sherman L, Lee R, Doherty EM, Vogt TF, Dominguez C, Lashuel HA, Petricca L, Caricasole A
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13
Biochem Biophys Res Commun
January 15, 2020
521 (3) :549-554
521 (3) :549-554
PMID: 31677786
Julayanont P, Heilman KM, McFarland NR|
Early-motor phenotype relates to neuropsychiatric and cognitive disorders in Huntington's disease
Bertoglio D, Verhaeghe J, Korat Š, Miranda A, Cybulska K, Wyffels L, Stroobants S, Mrzljak L, Dominguez C, Skinbjerg M, Liu L, Munoz-Sanjuan I, Staelens S
Elevated type 1 metabotropic glutamate receptor availability in a mouse model of Huntington's disease: a longitudinal PET study
Pflanz CP, Charquero-Ballester M, Majid DSA, Winkler AM, Vallée E, Aron AR, Jenkinson M, Douaud G
One-year changes in brain microstructure differentiate preclinical Huntington's disease stages
Aviolat H, Pinto RM, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason KB, DiFiglia M
Assessing average somatic CAG repeat instability at the protein level
Chandra A, Valkimadi PE, Pagano G, Cousins O, Dervenoulas G, Politis M, Alzheimer’s Disease Neuroimaging Initiative
Applications of amyloid, tau, and neuroinflammation PET imaging to Alzheimer's disease and mild cognitive impairment
Ardan T, Baxa M, Levinská B, Sedláčková M, Nguyen TD, Klíma J, Juhás Š, Juhásová J, Šmatlíková P, Vochozková P, Motlík J, Ellederová Z
Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
Dis Model Mech
December 12, 2019
13 (2) :dmm041319
13 (2) :dmm041319
PMID: 31645369
PMCID: PMC6918760
DOI: 10.1242/dmm.041319
Bertoglio D, Verhaeghe J, Korat Š, Miranda A, Wyffels L, Stroobants S, Mrzljak L, Dominguez C, Liu L, Skinbjerg M, Munoz-Sanjuan I, Staelens S
In vitro and In vivo assessment of suitable reference region and kinetic modelling for the mGluR1 radioligand [(11)C] ITDM in mice