Scientific Publications

Listed here are over 850 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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Dickey AS, Sanchez DN, Arreola M, Sampat KR, Fan W, Arbez N, Akimov S, Van Kanegan MJ, Ohnishi K, Gilmore-Hall SK, Flores AL, Nguyen JM, Lomas N, Hsu CL, Lo DC, Ross CA, Masliah E, Evans RM, La Spada AR
PPARδ activation by bexarotene promotes neuroprotection by restoring bioenergetic and quality control homeostasis
Sci Transl Med
December 6, 2017
9 (419) :eaal2332
PMID: 29212711
PMCID: PMC5748332
Arbez N, Ratovitski T, Roby E, Chighladze E, Stewart JC, Ren M, Wang X, Lavery DJ, Ross CA|
Post-translational modifications clustering within proteolytic domains decrease mutant huntingtin toxicity
J Biol Chem
November 24, 2017
292 (47) :19238-19249
PMID: 28972180
Friedman A, Homma D, Bloem B, Gibb LG, Amemori KI, Hu D, Delcasso S, Truong TF, Yang J, Hood AS, Mikofalvy KA, Beck DW, Nguyen N, Nelson ED, Toro Arana SE, Vorder Bruegge RH, Goosens KA, Graybiel AM
Chronic stress alters striosome-circuit dynamics, leading to aberrant decision-making
November 16, 2017
171 (5) :1191-1205
PMID: 29149606
PMCID: PMC5734095
Long JD, Mills JA, Leavitt BR, Durr A, Roos RA, Stout JC, Reilmann R, Landwehrmeyer B, Gregory S, Scahill RI, Langbehn DR, Tabrizi SJ, Track-HD and Track-On Investigators
Survival end points for Huntington disease trials prior to a motor diagnosis
JAMA Neurol
November 1, 2017
74 (11) :1352-1360
PMID: 28975278
PMCID: 5710578
Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
Haplotype-based stratification of Huntington's disease
Eur J Hum Genet
November 1, 2017
25 (11) :1202-1209
PMID: 28832564
Brown KE, Lohse KR, Mayer IMS, Strigaro G, Desikan M, Casula EP, Meunier S, Popa T, Lamy JC, Odish O, Leavitt BR, Durr A, Roos RAC, Tabrizi SJ, Rothwell JC, Boyd LA, Orth M
The reliability of commonly used electrophysiology measures
Brain Stimul
November 1, 2017
10 (6) :1102-1111
PMID: 28807846
Arnerić SP, Cedarbaum JM, Khozin S, Papapetropoulos S, Hill DL, Ropacki M, Rhodes J, Dacks PA, Hudson LD, Gordon MF, Kern VD, Romero K, Vradenburg G, Au R, Karlin DR, Facheris MF, Fitzer-Attas CJ, Vitolo OV, Wang J, Miller BM, Kaye JA
Biometric monitoring devices for assessing end points in clinical trials: developing an ecosystem
Nat Rev Drug Discov
October 31, 2017
16 (10)
PMID: 28935908
Wild EJ, Tabrizi SJ
Therapies targeting DNA and RNA in Huntington's disease
Lancet Neurol
October 31, 2017
16 (10) :837-847
PMID: 28920889
Wu D, Faria AV, Younes L, Mori S, Brown T, Johnson H, Paulsen JS, Ross CA, Miller MI, PREDICT-HD InvestigatorsCoordinators of the Huntington Study Group
Mapping the order and pattern of brain structural MRI changes using change-point analysis in premanifest Huntington's disease
Hum Brain Mapp
October 31, 2017
38 (10) :5035-5050
PMID: 28657159
Whittaker DS, Wang HB, Loh DH, Cachope R, Colwell CS
Possible use of a H3R antagonist for the management of nonmotor symptoms in the Q175 mouse model of Huntington's disease
Pharmacol Res Perspect
October 30, 2017
5 (5) :e00344
PMID: 28971617
PMCID: PMC5625154
Bondulich MK, Jolinon N, Osborne GF, Smith EJ, Rattray I, Neueder A, Sathasivam K, Ahmed M, Ali N, Benjamin AC, Chang X, Dick JRT, Ellis M, Franklin SA, Goodwin D, Inuabasi L, Lazell H, Lehar A, Richard-Londt A, Rosinski J, Smith DL, Wood T, Tabrizi SJ, Brandner S, Greensmith L, Howland D, Munoz-Sanjuan I, Lee SJ, Bates GP
Myostatin inhibition prevents skeletal muscle pathophysiology in Huntington's disease mice
Sci Rep
October 27, 2017
7 (1) :14275
PMID: 29079832
Warner JB 4th, Ruff KM, Tan PS, Lemke EA, Pappu RV, Lashuel HA
Monomeric Huntingtin Exon 1 has similar overall structural features for wild-type and pathological polyglutamine lengths
J Am Chem Soc
October 18, 2017
139 (41) :14456-14469
PMID: 28937758
Schuldenzucker V, Schubert R, Muratori LM, Freisfeld F, Rieke L, Matheis T, Schramke S, Motlik J, Kemper N, Radespiel U, Reilmann R
Behavioral testing of minipigs transgenic for the Huntington gene - A three-year observational study
PLoS One
October 9, 2017
12 (10) :e0185970
PMID: 29016656
PMCID: PMC5633197
Ghosh R, Tabrizi SJ
Gene suppression approaches to neurodegeneration
Alzheimers Res Ther
October 5, 2017
9 (1) :82
PMID: 28982376
PMCID: 5629803
Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF
A modifier of Huntington's disease onset at the MLH1 locus
Hum Mol Genet
October 1, 2017
26 (19) :3859-3867
PMID: 28934397
Bresciani A, Missineo A, Gallo M, Cerretani M, Fezzardi P, Tomei L, Cicero DO, Altamura S, Santoprete A, Ingenito R, Bianchi E, Pacifici R, Dominguez C, Munoz-Sanjuan I, Harper S, Toledo-Sherman L, Park LC
Nuclear factor (erythroid-derived 2)-like 2 (NRF2) drug discovery: Biochemical toolbox to develop NRF2 activators by reversible binding of Kelch-like ECH-associated protein 1 (KEAP1)
Arch Biochem Biophys
October 1, 2017
631 :31-41
PMID: 28801166
Frost C, Mulick A, Scahill RI, Owen G, Aylward E, Leavitt BR, Durr A, Roos RAC, Borowsky B, Stout JC, Reilmann R, Langbehn DR, Tabrizi SJ, Sampaio C, TRACK-HD Investigators
Design optimization for clinical trials in early-stage manifest Huntington's disease
Mov Disord
September 14, 2017
32 (11) :1610-1619
PMID: 28906031
Niccolini F, Pagano G, Fusar-Poli P, Wood A, Mrzljak L, Sampaio C, Politis M
Striatal molecular alterations in HD gene carriers: a systematic review and meta-analysis of PET studies
J Neurol Neurosurg Psychiatry
September 9, 2017
PMID: 28889093
Hensman Moss DJ, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S, TRACK-HD investigators, REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Lancet Neurol
September 1, 2017
16 (9) :701-711
PMID: 28642124
Brady ST, Morfini GA
Regulation of motor proteins, axonal transport deficits and adult-onset neurodegenerative diseases
Neurobiol Dis
September 1, 2017
105 :273-282
PMID: 28411118
PMCID: PMC5522763
Westervelt HJ, Bernier RA, Faust M, Gover M, Bockholt HJ, Zschiegner R, Long JD, Paulsen JS, PREDICT-HD Investigators, Coordinators of the Huntington Study Group
Data quality assurance and control in cognitive research: Lessons learned from the PREDICT-HD study
Int J Methods Psychiatr Res
September 1, 2017
26 (3) :43839
PMID: 28211597
Schain M, Fazio P, Mrzljak L, Amini N, Al-Tawil N, Fitzer-Attas C, Bronzova J, Landwehrmeyer B, Sampaio C, Halldin C, Varrone A
Revisiting the Logan plot to account for non-negligible blood volume in brain tissue
August 18, 2017
7 (66)
PMID: 28822101
PMCID: PMC5561763
Ratovitski T, O’Meally RN, Jiang M, Chaerkady R, Chighladze E, Stewart JC, Wang X, Arbez N, Roby E, Alexandris A, Duan W, Vijayvargia R, Seong IS, Lavery DJ, Cole RN, Ross CA
Post-Translational Modifications (PTMs), identified on endogenous Huntingtin, cluster within proteolytic domains between HEAT repeats
J Proteome Res
August 4, 2017
16 (8) :2692-2708
PMID: 28653853
PMCID: PMC5560079
Zheng P, Kozloski J
Striatal network models of Huntington's disease dysfunction phenotypes
Front Comput Neurosci
July 27, 2017
11 (70)
PMID: 28798680
PMCID: PMC5529396
Ghosh S, Sun Z, Li Y, Cheng Y, Mohan A, Sampaio C, Hu J
An exploration of latent structure in observational Huntington's disease studies
AMIA Jt Summits Transl Sci Proc
July 26, 2017
2017 :92-102
PMID: 28815114
PMCID: 5543350
Dietrich P, Johnson IM, Alli S, Dragatsis I
Elimination of huntingtin in the adult mouse leads to progressive behavioral deficits, bilateral thalamic calcification, and altered brain iron homeostasis
PLoS Genet
July 17, 2017
13 (7) :e1006846
PMID: 28715425
PMCID: PMC5536499
Kalathur RKR, Pedro Pinto J, Sahoo B, Chaurasia G, Futschik ME
HDNetDB: A molecular interaction database for network-oriented investigations into Huntington's disease
Sci Rep
July 12, 2017
7 (1) :5216
PMID: 28701700
PMCID: 5507972
Daldin M, Fodale V, Cariulo C, Azzollini L, Verani M, Martufi P, Spiezia MC, Deguire SM, Cherubini M, Macdonald D, Weiss A, Bresciani A, Vonsattel JG, Petricca L, Marsh JL, Gines S, Santimone I, Marano M, Lashuel HA. Squitieri F, Caricasole A
Polyglutamine expansion affects huntingtin conformation in multiple Huntington's disease models
Sci Reports
July 11, 2017
7 (5070) :43843
PMID: 28698602
PMCID: PMC5505970
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
J Am Chem Soc
July 5, 2017
139 (26) :8820-8827
PMID: 28609090
Khakh BS, Beaumont V, Cachope R, Munoz-Sanjuan I, Goldman SA, Grantyn R
Unravelling and exploiting astrocyte dysfunction in Huntington's disease
Trends Neurosci
July 1, 2017
40 (7) :422-437
PMID: 28578789
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
July 1, 2017
92 :139-149
PMID: 28482181
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
Bioconjug Chem
June 21, 2017
28 (6) :1758-1766
PMID: 28462988
Teka WW, Hamade KC, Barnett WH, Kim T, Markin SN, Rybak IA, Molkov YI
From the motor cortex to the movement and back again
PLoS One
June 20, 2017
12 (6) :e0179288
PMID: 28632736
PMCID: PMC5478113
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
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
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
June 3, 2017
352 :79-87
PMID: 28391013
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
Sci Rep
June 1, 2017
7 (1) :4014
PMID: 28638078
PMCID: PMC5479833
Cleary JD, Ranum LP
New developments in RAN translation: insights from multiple diseases
Curr Opin Genet Dev
June 1, 2017
44 :125-134
PMID: 28365506
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
PMID: 28294457
PMCID: PMC5434856
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
May 15, 2017
152 :330-339
PMID: 28254508