Scientific Publications

Listed here are over 900 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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Mestre TA, Bachoud-Lévi AC, Marinus J, Stout JC, Paulsen JS, Como P, Duff K, Sampaio C, Goetz CG, Cubo E, Stebbins GT, Martinez-Martin P, Members of the MDS Committee on Rating Scales Development
Rating scales for cognition in Huntington's disease: Critique and recommendations
Mov Disord
February 19, 2018
33 (2) :187-195
PMID: 29278291
Hassler MR, Turanov AA, Alterman JF, Haraszti RA, Coles AH, Osborn MF, Echeverria D, Nikan M, Salomon WE, Roux L, Godinho BMDC, Davis SM, Morrissey DV, Zamore PD, Karumanchi SA, Moore MJ, Aronin N, Khvorova A
Comparison of partially and fully chemically-modified siRNA in conjugate-mediated delivery in vivo
Nucleic Acids Res
February 8, 2018
PMID: 29432571
Harrison DJ Roberton VH Vinh NN Brooks SP Dunnett SB Rosser AE
The effect of tissue preparation and donor age on striatal graft morphology in the mouse
Cell Transplant
February 2, 2018
27 (2) :230-244
PMID: 29637815
PMCID: PMC5898691
Arnerić SP, Kern VD, Stephenson DT
Regulatory-accepted drug development tools are needed to accelerate innovative CNS disease treatments
Biochem Pharmacol
January 30, 2018
151 :291-306
PMID: 29410157
Ruzo A, Croft GF, Metzger JJ, Galgoczi S, Gerber LJ, Pellegrini C, Wang H Jr, Fenner M, Tse S, Marks A, Nchako C, Brivanlou AH
Chromosomal instability during neurogenesis in Huntington's disease
January 29, 2018
145 (2) :dev156844
PMID: 29378824
Johnson EB, Byrne LM, Gregory S, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RA, Zetterberg H, Tabrizi SJ, Scahill RI, Wild EJ, TRACK-HD Study Group
Neurofilament light protein in blood predicts regional atrophy in Huntington disease
January 24, 2018
PMID: 29367444
Reed ER, Latourelle JC, Bockholt JH, Bregu J, Smock J, Paulsen JS, Myers RH, PREDICT-HD CSF ancillary study investigators
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study
January 23, 2018
90 (4) :e264-e272
PMID: 29282329
PMCID: 5798654
Sbodio JI, Snyder SH, Paul BD
Golgi stress response reprograms cysteine metabolism to confer cytoprotection in Huntington's disease
Proc Natl Acad Sci USA
January 23, 2018
115 (4) :780-785
PMID: 29317536
PMCID: 5789946
Casula EP, Mayer IMS, Desikan M, Tabrizi SJ, Rothwell JC, Orth M
Motor cortex synchronization influences the rhythm of motor performance in premanifest Huntington's disease
Mov Disord
January 22, 2018
33 (3) :440-448
PMID: 29356133
Sepers MD, Smith-Dijak A, LeDue J, Kolodziejczyk K, Mackie K, Raymond LA
Endocannabinoid-specific impairment in synaptic plasticity in striatum of Huntington's disease mouse model
J Neurosci
January 17, 2018
38 (3) :544-554
PMID: 29192125
Langfelder P, Gao F, Wang N, Howland D, Kwak S, Vogt TF, Aaronson JS, Rosinski J, Coppola G, Horvath S, Yang XW
MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice
PLoS One
January 11, 2018
13 (1) :e0190550
PMID: 29324753
Carlozzi NE, Hahn EA, Frank SA, Perlmutter JS, Downing ND, McCormack MK, Barton S, Nance MA, Schilling SG, HDQLIFE Site Investigators and Coordinators
A new measure for end of life planning, preparation, and preferences in Huntington disease: HDQLIFE end of life planning
J Neurol
January 10, 2018
265 (1) :98-107
PMID: 29143208
PMCID: PMC5762414
Conforti P, Besusso D, Bocchi VD, Faedo A, Cesana E, Rossetti G, Ranzani V, Svendsen CN, Thompson LM, Toselli M, Biella G, Pagani M, Cattaneo E
Faulty neuronal determination and cell polarization are reverted by modulating HD early phenotypes
Proc Natl Acad Sci USA
January 8, 2018
115 (4) :E762-E771
PMID: 29311338
Mestre TA, Forjaz MJ, Mahlknecht P, Cardoso F, Ferreira JJ, Reilmann R, Sampaio C, Goetz CG, Cubo E, Martinez-Martin P, Stebbins GT, Members of the Movement Disorder Society Committee on Rating Scales Development
Rating scales for motor symptoms and signs in Huntington's disease: Critique and recommendations
Mov Disord Clin Pract
January 3, 2018
5 (2) :111-117
PMID: 30363393
PMCID: 6174417
Wang HB, Loh DH, Whittaker DS, Cutler T, Howland D, Colwell CS
Time-restricted feeding improves circadian dysfunction as well as motor symptoms in the Q175 mouse model of Huntington's disease
January 3, 2018
5 (1)
PMID: 29302618
PMCID: PMC5752678
Al-Ramahi I, Panapakkam Giridharan SS, Chen YC, Patnaik S, Safren N, Hasegawa J, de Haro M, Wagner Gee AK, Titus SA, Jeong H, Clarke J, Krainc D, Zheng W, Irvine RF, Barmada S, Ferrer M, Southall N, Weisman LS, Botas J, Marugan JJ
Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin protein
December 26, 2017
6 :e29123
PMID: 29256861
PMCID: PMC5743427
Hensman Moss DJ, Robertson N, Farmer R, Scahill RI, Haider S, Tessari MA, Flynn G, Fischer DF, Wild EJ, Macdonald D, Tabrizi SJ
Quantification of huntingtin protein species in Huntington's disease patient leukocytes using optimised electrochemiluminescence immunoassays
PLoS One
December 22, 2017
12 (12) :e0189891
PMID: 29272284
Schobel SA, Palermo G, Auinger P, Long JD, Ma S, Khwaja OS, Trundell D, Cudkowicz M, Hersch S, Sampaio C, Dorsey ER, Leavitt BR, Kieburtz KD, Sevigny JJ, Langbehn DR, Tabrizi SJ, TRACK-HD, COHORT, CARE-HD, and 2CARE Huntington Study Group Investigators
Motor, cognitive, and functional declines contribute to a single progressive factor in early HD
December 12, 2017
89 (24) :2495-2502
PMID: 29142089
PMCID: PMC5729794
Fodale V, Boggio R, Daldin M, Cariulo C, Spiezia MC, Byrne LM, Leavitt BR, Wild EJ, Macdonald D, Weiss A, Bresciani A
Validation of ultrasensitive mutant Huntingtin detection in human cerebrospinal fluid by single molecule counting immunoassay
J Huntingtons Dis
December 12, 2017
6 (4) :349-361
PMID: 29125493
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