Scientific Publications

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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Matsui JT, Vaidya JG, Wassermann D, Kim RE, Magnotta VA, Johnson HJ, Paulsen JS, Predict-HD Investigators, Coordinators of the Huntington Study Group
Prefrontal cortex white matter tracts in prodromal Huntington disease
Hum Brain Mapp
October 1, 2015
36 (10) :3717-32
PMID: 26179962
PMCID: PMC4583330
Kim JI, Long JD, Mills JA, Downing N, Williams JK, Paulsen JS, Predict-HD Investigators, Coordinators of the Huntington Study Group
Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease
Eur J Hum Genet
October 1, 2015
23 (11) :1584-7
PMID: 25735480
Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
The Genetic Modifiers of Motor OnsetAge (GeM MOA) website: Genome-wide association analysis for genetic modifiers of Huntington`s disease
J Huntingtons Dis
September 29, 2015
4 (3) :279-84
PMID: 26444025
Beglinger LJ, Adams WH, Fiedorowicz JG, Duff K, Langbehn D, Biglan K, Caviness J, Olson B, Paulsen JS
Practice effects and stability of neuropsychological and UHDRS tests over short retest intervals in Huntington disease
J Huntingtons Dis
September 29, 2015
4 (3) :251-60
PMID: 26444022
Johnson E, Chase K, McGowan S, Mondo E, Pfister E, Mick E, Friedline RH, Kim JK, Sapp E, DiFiglia M, Aronin N
Safety of striatal infusion of siRNA in a transgenic Huntington`s disease mouse model
J Huntingtons Dis
September 29, 2015
4 (3) :219-29
PMID: 26444021
Gregory S, Scahill RI, Seunarine KK, Stopford C, Zhang H, Zhang J, Orth M, Durr A, Roos RA, Langbehn DR, Long JD, Johnson H, Rees G, Tabrizi SJ, Craufurd D
Neuropsychiatry and white matter microstructure in Huntington`s disease
J Huntingtons Dis
September 29, 2015
4 (3) :239-49
PMID: 26443926
PMCID: PMC4684097
Liu D, Long JD, Zhang Y, Raymond LA, Marder K, Rosser A, McCusker EA, Mills JA, Paulsen JS, Predict-HD Investigators, Coordinators of the Huntington Study Group
Motor onset and diagnosis in Huntington disease using the diagnostic confidence level
J Neurol
September 26, 2015
262 (12) :2691-8
PMID: 26410751
Straccia M, Garcia-Diaz Barriga G, Sanders P, Bombau G, Carrere J, Mairal PB, Vinh NN, Yung S, Kelly CM, Svendsen CN, Kemp PJ, Arjomand J, Schoenfeld RC, Alberch J, Allen ND, Rosser AE, Canals JM
Quantitative high-throughput gene expression profiling of human striatal development to screen stem cell-derived medium spiny neurons
Mol Ther Methods Clin Dev
September 16, 2015
2 :15030
PMID: 26417608
PMCID: PMC4571731
Gatto RG, Chu Y, Ye AQ, Price SD, Tavassoli E, Buenaventura A, Brady ST, Magin RL, Kordower JH, Morfini GA
Analysis of YFP(J16)-R6/2 reporter mice and postmortem brains reveals early pathology and increased vulnerability of callosal axons in Huntington`s disease
Hum Mol Genet
September 15, 2015
24 (18) :5285-98
PMID: 26123489
PMCID: PMC4550824
Ciamei A, Detloff PJ, Morton AJ
Progression of behavioural despair in R6/2 and Hdh knock-in mouse models recapitulates depression in Huntington`s disease
Behav Brain Res
September 15, 2015
291 :140-6
PMID: 25986402
Bustamante MB, Ansaloni A, Pedersen JF, Azzollini L, Cariulo C, Wang ZM, Petricca L, Verani M, Puglisi F, Park H, Lashuel H, Caricasole A
Detection of huntingtin exon 1 phosphorylation by Phos-Tag SDS-PAGE: Predominant phosphorylation on threonine 3 and regulation by IKKbeta
Biochem Biophys Res Commun
August 7, 2015
463 (4) :1317-22
PMID: 26106822
Kloppel S, Gregory S, Scheller E, Minkova L, Razi A, Durr A, Roos RAC, Leavitt BR, Papoutsi M, Landwehrmeyer GB, Reilmann R, Borowsky B, Johnson H, Mills JA, Owen G, Stout J, Scahill RI, Long JD, Rees G, Tabrizi SJ
Compensation in preclinical Huntington`s disease: evidence from the Track-On HD study
E Bio Medicine
August 4, 2015
2 (10) :1420-9
PMID: 26629536
PMCID: 4634199
Arrowsmith CH, Audia JE, Austin C, Baell J, Bennett J, Blagg J, Bountra C, Brennan PE, Brown PJ, Bunnage ME, Buser-Doepner C, Campbell RM, Carter AJ, Cohen P, Copeland RA, Cravatt B, Dahlin JL, Dhanak D, Edwards AM, Frye SV, Gray N, Grimshaw CE, Hepworth D, Howe T, Huber KV, Jin J, Knapp S, Kotz JD, Kruger RG, Lowe D, Mader MM, Marsden B, Mueller-Fahrnow A, Muller S, O`Hagan RC, Overington JP, Owen DR,…Zuercher WJ
The promise and peril of chemical probes
Nat Chem Biol
August 1, 2015
11 (8) :536-41
PMID: 26196764
Harrington DL, Rubinov M, Durgerian S, Mourany L, Reece C, Koenig K, Bullmore E, Long JD, Paulsen JS, Predict-Hd investigators of the Huntington Study Group, Rao SM
Network topology and functional connectivity disturbances precede the onset of Huntington`s disease
Brain
August 1, 2015
138 (Pt 8) :2332-46
PMID: 26059655
Plotkin JL, Surmeier DJ
Corticostriatal synaptic adaptations in Huntington`s disease
Curr Opin Neurobiol
August 1, 2015
33 :53-62
PMID: 25700146
O`Brien R, DeGiacomo F, Holcomb J, Bonner A, Ring KL, Zhang N, Zafar K, Weiss A, Lager B, Schilling B, Gibson BW, Chen S, Kwak S, Ellerby LM
Integration-independent transgenic Huntington disease fragment mouse models reveal distinct phenotypes and life span in vivo
J Biol Chem
July 31, 2015
290 (31) :19287-306
PMID: 26025364
PMCID: PMC4521048
GeM-HD Consortium
Identification of genetic factors that modify clinical onset of Huntington`s disease
Cell
July 30, 2015
162 (3) :516-26
PMID: 26232222
PMCID: PMC4524551
Khakh BS, Sofroniew MV
Diversity of astrocyte functions and phenotypes in neural circuits
Nat Neurosci
July 1, 2015
18 (7) :942-52
PMID: 26108722
Achour M, Le Gras S, Keime C, Parmentier F, Lejeune FX, Boutillier AL, Néri C, Davidson I, Merienne K
Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington's disease mice
Hum Mol Genet
June 15, 2015
24 (12) :3481-96
PMID: 25784504
Friedman A, Homma D, Gibb LG, Amemori K, Rubin SJ, Hood AS, Riad MH, Graybiel AM
A corticostriatal path targeting striosomes controls decision-making under conflict
Cell
June 4, 2015
161 (6) :1320-33
PMID: 26027737
PMCID: PMC4477966
Becanovic K, Norremolle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA, Registry Investigators of the European Huntington`s Disease Network, Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR
A SNP in the HTT promoter alters NF-kappaB binding and is a bidirectional genetic modifier of Huntington disease
Nat Neurosci
June 1, 2015
18 (6) :807-16
PMID: 25938884
Odish OF, Leemans A, Reijntjes RH, van den Bogaard SJ, Dumas EM, Wolterbeek R, Tax CM, Kuijf HJ, Vincken KL, van der Grond J, Roos RA
Microstructural brain abnormalities in Huntington`s disease: A two-year follow-up
Hum Brain Mapp
June 1, 2015
36 (6) :2061-74
PMID: 25644819
Dominguez JF, Ng AC, Poudel G, Stout JC, Churchyard A, Chua P, Egan GF, Georgiou-Karistianis N
Iron accumulation in the basal ganglia in Huntington`s disease: cross-sectional data from the IMAGE-HD study
J Neurol Neurosurg Psychiatry
May 7, 2015
87 (5) :545-9
PMID: 25952334
Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A
Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington`s disease patients
J Clin Invest
May 1, 2015
125 (5) :1979-86
PMID: 25844897
PMCID: PMC4463213
Novak MJ, Seunarine KK, Gibbard CR, McColgan P, Draganski B, Friston K, Clark CA, Tabrizi SJ
Basal ganglia-cortical structural connectivity in Huntington`s disease
Hum Brain Mapp
May 1, 2015
36 (5) :1728-40
PMID: 25640796
Jin J, Peng Q, Hou Z, Jiang M, Wang X, Langseth AJ, Tao M, Barker PB, Mori S, Bergles DE, Ross CA, Detloff PJ, Zhang J, Duan W
Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington`s disease
Hum Mol Genet
May 1, 2015
24 (9) :2508-27
PMID: 25609071
PMCID: PMC4383863
Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation
Hum Mol Genet
May 1, 2015
24 (9) :2442-57
PMID: 25574027
PMCID: 4383859
Wityak J, McGee KF, Conlon MP, Song RH, Duffy BC, Clayton B, Lynch M, Wang G, Freeman E, Haber J, Kitchen DB, Manning DD, Ismail J, Khmelnitsky Y, Michels P, Webster J, Irigoyen M, Luche M, Hultman M, Bai M, Kuok ID, Newell R, Lamers M, Leonard P, Yates D, Matthews K, Ongeri L, Clifton S, Mead T, Deupree S, Wheelan P, Lyons K, Wilson C, Kiselyov A, Toledo-Sherman L, Beconi M, Muñoz-Sanjuan I, Bard J, Dominguez C
Lead optimization toward proof-of-concept tools for Huntington's disease within a 4-(1H-pyrazol-4-yl) pyrimidine class of pan-JNK inhibitors
J Med Chem
April 9, 2015
58 (7) :2967-87
PMID: 25760409
Larson E, Fyfe I, Morton AJ, Monckton DG
Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice
Neurobiol Dis
April 1, 2015
76 :98-111
PMID: 25662336
Sanders SS, Hayden MR
Aberrant palmitoylation in Huntington disease
Biochem Soc Trans
April 1, 2015
43 (2) :205-10
PMID: 25849918
Hering T, Birth N, Taanman JW, Orth M
Selective striatal mtDNA depletion in end-stage Huntington`s disease R6/2 mice
Exp Neurol
April 1, 2015
266 :22-9
PMID: 25682918
Khakh BS, McCarthy KD
Astrocyte calcium signaling: from observations to functions and the challenges therein
Cold Spring Harb Perspect Biol
April 1, 2015
7 (4) :a020404
PMID: 25605709
Valenza M, Marullo M, Di Paolo E, Cesana E, Zuccato C, Biella G, Cattaneo E
Disruption of astrocyte-neuron cholesterol cross talk affects neuronal function in Huntington`s disease
Cell Death Differ
April 1, 2015
22 (4) :690-702
PMID: 25301063
PMCID: 4356339
Wassef SN, Wemmie J, Johnson CP, Johnson H, Paulsen JS, Long JD, Magnotta VA
T1rho imaging in premanifest Huntington disease reveals changes associated with disease progression
Mov Disord
March 29, 2015
30 (8) :1107-14
PMID: 25820773
Orsatti L, Speziale R, Orsale MV, Caretti F, Veneziano M, Zini M, Monteagudo E, Lyons K, Beconi M, Chan K, Herbst T, Toledo-Sherman L, Munoz-Sanjuan I, Bonelli F, Dominguez C
A single-run liquid chromatography mass spectrometry method to quantify neuroactive kynurenine pathway metabolites in rat plasma
J Pharm Biomed Anal
March 25, 2015
107 :426-31
PMID: 25668794
Penrose SD, Stott AJ, Breccia P, Haughan AF, Burli RW, Jarvis RE, Dominguez C
Inter- and intramolecular annulation strategies to a cyclopentanone building block containing an all-carbon quaternary stereogenic center
Org Lett
March 20, 2015
17 (6) :1401-4
PMID: 25720587
Estrada-Sanchez AM, Burroughs CL, Cavaliere S, Barton SJ, Chen S, Yang XW, Rebec GV
Cortical efferents lacking mutant huntingtin improve striatal neuronal activity and behavior in a conditional mouse model of Huntington`s disease
J Neurosci
March 11, 2015
35 (10) :4440-51
PMID: 25762686
PMCID: 4355206
Sturrock A, Laule C, Wyper K, Milner RA, Decolongon J, Dar Santos R, Coleman AJ, Carter K, Creighton S, Bechtel N, Bohlen S, Reilmann R, Johnson HJ, Hayden MR, Tabrizi SJ, Mackay AL, Leavitt BR
A longitudinal study of magnetic resonance spectroscopy Huntington`s disease biomarkers
Mov Disord
March 1, 2015
30 (3) :393-401
PMID: 25690257
Cao Y, Bartolomé-Martín D, Rotem N, Rozas C, Dellal SS, Chacon MA, Kadriu B, Gulinello M, Khodakhah K, Faber DS
Rescue of homeostatic regulation of striatal excitability and locomotor activity in a mouse model of Huntington's disease
Proc Natl Acad Sci USA
February 17, 2015
112 (7) :2239-44
PMID: 25646456
PMCID: PMC4343133
Toledo-Sherman LM, Prime ME, Mrzljak L, Beconi MG, Beresford A, Brookfield FA, Brown CJ, Cardaun I, Courtney SM, Dijkman U, Hamelin-Flegg E, Johnson PD, Kempf V, Lyons K, Matthews K, Mitchell WL, O`Connell C, Pena P, Powell K, Rassoulpour A, Reed L, Reindl W, Selvaratnam S, Friley WW, Weddell DA, Went NE, Wheelan P, Winkler C, Winkler D, Wityak J, Yarnold CJ, Yates D, Munoz-Sanjuan I, Dominguez C
Development of a series of aryl pyrimidine kynurenine monooxygenase inhibitors as potential therapeutic agents for the treatment of Huntington`s disease
J Med Chem
February 12, 2015
58 (3) :1159-83
PMID: 25590515