Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies

Prion-Like Characteristics of Polyglutamine-Containing Proteins

(2017) Margaret M.P. Pearce et al.   Cold Spring Harbor Perspectives in Medicine

siRNA screen identifies QPCT as a druggable target for Huntington's disease

(2015) Maria Jimenez-Sanchez et al.   Nature Chemical Biology

Mutant huntingtin is present in neuronal grafts in huntington disease patients

(2014) Francesca Cicchetti et al.   ANNALS OF NEUROLOGY

HTT-lowering reverses Huntington’s disease immune dysfunction caused by NFκB pathway dysregulation

(2014) Ulrike Träger et al.   BRAIN

Silencing Mutant Huntingtin by Adeno-Associated Virus-Mediated RNA Interference Ameliorates Disease Manifestations in the YAC128 Mouse Model of Huntington's Disease

(2014) Lisa M. Stanek et al.   HUMAN GENE THERAPY

Disruption of the nuclear membrane by perinuclear inclusions of mutant huntingtin causes cell-cycle re-entry and striatal cell death in mouse and cell models of Huntington's disease

(2014) Kuan-Yu Liu et al.   HUMAN MOLECULAR GENETICS

The Regulation of Autophagosome Dynamics by Huntingtin and HAP1 Is Disrupted by Expression of Mutant Huntingtin, Leading to Defective Cargo Degradation

(2014) Y. C. Wong et al.   JOURNAL OF NEUROSCIENCE

Huntingtin Is Required for Normal Excitatory Synapse Development in Cortical and Striatal Circuits

(2014) S. U. McKinstry et al.   JOURNAL OF NEUROSCIENCE

Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington’s disease

(2014) Bindu D. Paul et al.   NATURE

Huntington's disease is a four-repeat tauopathy with tau nuclear rods

(2014) Marta Fernández-Nogales et al.   NATURE MEDICINE

Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases

(2014) Jing L Guo et al.   NATURE MEDICINE

Transneuronal propagation of mutant huntingtin contributes to non–cell autonomous pathology in neurons

(2014) Eline Pecho-Vrieseling et al.   NATURE NEUROSCIENCE

Inhibition of mitochondrial protein import by mutant huntingtin

(2014) Hiroko Yano et al.   NATURE NEUROSCIENCE

Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors

(2014) Andrea Crotti et al.   NATURE NEUROSCIENCE

Astrocyte Kir4.1 ion channel deficits contribute to neuronal dysfunction in Huntington's disease model mice

(2014) Xiaoping Tong et al.   NATURE NEUROSCIENCE

PRECREST: A phase II prevention and biomarker trial of creatine in at-risk Huntington disease

(2014) H. D. Rosas et al.   NEUROLOGY

Impaired TrkB Receptor Signaling Underlies Corticostriatal Dysfunction in Huntington’s Disease

(2014) Joshua L. Plotkin et al.   NEURON

Potential function for the Huntingtin protein as a scaffold for selective autophagy

(2014) Joseph Ochaba et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Therapeutic induction of autophagy to modulate neurodegenerative disease progression

(2013) Warren E Hochfeld et al.   ACTA PHARMACOLOGICA SINICA

Genetic manipulations of mutant huntingtin in mice: new insights into Huntington's disease pathogenesis

(2013) C. Y. Daniel Lee et al.   FEBS Journal

Dynamic recruitment of active proteasomes into polyglutamine initiated inclusion bodies

(2013) Sabine Schipper-Krom et al.   FEBS LETTERS

MeCP2: a novel Huntingtin interactor

(2013) K. N. McFarland et al.   HUMAN MOLECULAR GENETICS

Small-molecule TrkB receptor agonists improve motor function and extend survival in a mouse model of Huntington's disease

(2013) M. Jiang et al.   HUMAN MOLECULAR GENETICS

Expanded Polyglutamine-containing N-terminal Huntingtin Fragments Are Entirely Degraded by Mammalian Proteasomes

(2013) Katrin Juenemann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transfer of polyglutamine aggregates in neuronal cells occurs in tunneling nanotubes

(2013) M. Costanzo et al.   JOURNAL OF CELL SCIENCE

Inhibition of mitochondrial fragmentation diminishes Huntington’s disease–associated neurodegeneration

(2013) Xing Guo et al.   JOURNAL OF CLINICAL INVESTIGATION

The long-term safety and efficacy of bilateral transplantation of human fetal striatal tissue in patients with mild to moderate Huntington's disease

(2013) R. A. Barker et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A Small Molecule TrkB Ligand Reduces Motor Impairment and Neuropathology in R6/2 and BACHD Mouse Models of Huntington's Disease

(2013) D. A. Simmons et al.   JOURNAL OF NEUROSCIENCE

Mutant Huntingtin Alters Retrograde Transport of TrkB Receptors in Striatal Dendrites

(2013) G. Liot et al.   JOURNAL OF NEUROSCIENCE

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

(2013) Sarah J Tabrizi et al.   LANCET NEUROLOGY

Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models

(2013) Sonia Marco et al.   NATURE MEDICINE

Selective Roles of Normal and Mutant Huntingtin in Neural Induction and Early Neurogenesis

(2013) Giang D. Nguyen et al.   PLoS One

Extensive changes in DNA methylation are associated with expression of mutant huntingtin

(2013) C. W. Ng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting H3K4 trimethylation in Huntington disease

(2013) M. Vashishtha et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Imbalance of p75NTR/TrkB protein expression in Huntington’s disease: implication for neuroprotective therapies

(2013) V Brito et al.   Cell Death & Disease

A Randomized Feasibility Study of a 12-Week Community-Based Exercise Program for People With Huntingtonʼs Disease

(2013) Monica Busse et al.   Journal of Neurologic Physical Therapy

HDAC4 Reduction: A Novel Therapeutic Strategy to Target Cytoplasmic Huntingtin and Ameliorate Neurodegeneration

(2013) Michal Mielcarek et al.   PLOS BIOLOGY

Six-month partial suppression of Huntingtin is well tolerated in the adult rhesus striatum

(2012) Richard Grondin et al.   BRAIN

Expression of mutant N-terminal huntingtin fragment (htt552-100Q) in astrocytes suppresses the secretion of BDNF

(2012) Linhui Wang et al.   BRAIN RESEARCH

Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis

(2012) Tamara Ratovitski et al.   CELL CYCLE

Identification of a Karyopherin β1/β2 Proline-Tyrosine Nuclear Localization Signal in Huntingtin Protein

(2012) Carly R. Desmond et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutant huntingtin impairs immune cell migration in Huntington disease

(2012) Wanda Kwan et al.   JOURNAL OF CLINICAL INVESTIGATION

Bone Marrow Transplantation Confers Modest Benefits in Mouse Models of Huntington's Disease

(2012) W. Kwan et al.   JOURNAL OF NEUROSCIENCE

Cannabinoid Receptor 2 Signaling in Peripheral Immune Cells Modulates Disease Onset and Severity in Mouse Models of Huntington's Disease

(2012) J. Bouchard et al.   JOURNAL OF NEUROSCIENCE

An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin

(2012) Valentina Lo Sardo et al.   NATURE NEUROSCIENCE

Disrupted GABAAR trafficking and synaptic inhibition in a mouse model of Huntington's disease

(2012) Eunice Y. Yuen et al.   NEUROBIOLOGY OF DISEASE

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

(2012) Holly B. Kordasiewicz et al.   NEURON

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

(2012) Mónica Bañez-Coronel et al.   PLoS Genetics

Kynurenine 3-Monooxygenase Inhibition in Blood Ameliorates Neurodegeneration

(2011) Daniel Zwilling et al.   CELL

The Kynurenine Pathway Modulates Neurodegeneration in a Drosophila Model of Huntington's Disease

(2011) Susanna Campesan et al.   CURRENT BIOLOGY

α-Synuclein modifies huntingtin aggregation in living cells

(2011) Federico Herrera et al.   FEBS LETTERS

α-Synuclein accumulates in huntingtin inclusions but forms independent filaments and its deficiency attenuates early phenotype in a mouse model of Huntington's disease

(2011) Cristina Tomás-Zapico et al.   HUMAN MOLECULAR GENETICS

α-Synuclein levels modulate Huntington's disease in mice

(2011) Silvia Corrochano et al.   HUMAN MOLECULAR GENETICS

Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease

(2011) U. P. Shirendeb et al.   HUMAN MOLECULAR GENETICS

Impaired α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) Receptor Trafficking and Function by Mutant Huntingtin

(2011) Madhuchhanda Mandal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Preclinical Safety of RNAi-Mediated HTT Suppression in the Rhesus Macaque as a Potential Therapy for Huntington's Disease

(2011) Jodi L McBride et al.   MOLECULAR THERAPY

Molecular chaperones in protein folding and proteostasis

(2011) F. Ulrich Hartl et al.   NATURE

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity

(2011) Wenjun Song et al.   NATURE MEDICINE

A Randomized, Placebo-Controlled Trial of Latrepirdine in Huntington Disease

(2010) Karl Kieburtz   ARCHIVES OF NEUROLOGY

The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus

(2010) Edoardo Marcora et al.   HUMAN MOLECULAR GENETICS

Impairment of PGC-1alpha expression, neuropathology and hepatic steatosis in a transgenic mouse model of Huntington's disease following chronic energy deprivation

(2010) R. K. Chaturvedi et al.   HUMAN MOLECULAR GENETICS

Antioxidants can inhibit basal autophagy and enhance neurodegeneration in models of polyglutamine disease

(2010) B. R. Underwood et al.   HUMAN MOLECULAR GENETICS

Mutant Huntingtin Fragments Form Oligomers in a Polyglutamine Length-dependent Mannerin Vitroandin Vivo

(2010) Justin Legleiter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutant Huntingtin in Glial Cells Exacerbates Neurological Symptoms of Huntington Disease Mice

(2010) Jennifer Bradford et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Role for Huntington Disease Protein in Dendritic RNA Granules

(2010) Jeffrey N. Savas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

α-Synuclein impairs macroautophagy: implications for Parkinson’s disease

(2010) Ashley R. Winslow et al.   JOURNAL OF CELL BIOLOGY

Acute Polyglutamine Expression in Inducible Mouse Model Unravels Ubiquitin/Proteasome System Impairment and Permanent Recovery Attributable to Aggregate Formation

(2010) Z. Ortega et al.   JOURNAL OF NEUROSCIENCE

Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease

(2010) Marta Martinez-Vicente et al.   NATURE NEUROSCIENCE

Cell-to-cell transmission of non-prion protein aggregates

(2010) Seung-Jae Lee et al.   Nature Reviews Neurology

Huntingtin Is Required for Mitotic Spindle Orientation and Mammalian Neurogenesis

(2010) Juliette D. Godin et al.   NEURON

Delivery of GABAARs to Synapses Is Mediated by HAP1-KIF5 and Disrupted by Mutant Huntingtin

(2010) Alison E. Twelvetrees et al.   NEURON

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice

(2010) Austen J. Milnerwood et al.   NEURON

A myriad of miRNA variants in control and Huntington’s disease brain regions detected by massively parallel sequencing

(2010) Eulàlia Martí et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Behavioral Testing in the R6/2 Mouse Model of Huntington's Disease Shows No Benefit from CoQ10 or Minocycline

(2010) Liliana B. Menalled et al.   PLoS One

Formation and Toxicity of Soluble Polyglutamine Oligomers in Living Cells

(2010) Patrick Lajoie et al.   PLoS One

Deletion of the Huntingtin Polyglutamine Stretch Enhances Neuronal Autophagy and Longevity in Mice

(2010) Shuqiu Zheng et al.   PLoS Genetics

Sustained effects of nonallele-specificHuntingtinsilencing

(2009) Valérie Drouet et al.   ANNALS OF NEUROLOGY

Microglial CB2 cannabinoid receptors are neuroprotective in Huntington's disease excitotoxicity

(2009) Javier Palazuelos et al.   BRAIN

Combating depression in Huntingtonʼs disease: effective antidepressive treatment with venlafaxine XR

(2009) Anna K. Holl et al.   INTERNATIONAL CLINICAL PSYCHOPHARMACOLOGY

The Bifunctional microRNA miR-9/miR-9* Regulates REST and CoREST and Is Downregulated in Huntington's Disease

(2009) A. N. Packer et al.   JOURNAL OF NEUROSCIENCE

Prions hijack tunnelling nanotubes for intercellular spread

(2009) Karine Gousset et al.   NATURE CELL BIOLOGY

Cytoplasmic penetration and persistent infection of mammalian cells by polyglutamine aggregates

(2009) Pei-Hsien Ren et al.   NATURE CELL BIOLOGY

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin

(2009) Shu-ichi Okamoto et al.   NATURE MEDICINE

Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin

(2009) Gerardo A Morfini et al.   NATURE NEUROSCIENCE

Glutamate toxicity in the striatum of the R6/2 Huntington's disease transgenic mice is age-dependent and correlates with decreased levels of glutamate transporters

(2009) Ana María Estrada-Sánchez et al.   NEUROBIOLOGY OF DISEASE

The Ubiquitin-Proteasome Reporter GFPu Does Not Accumulate in Neurons of the R6/2 Transgenic Mouse Model of Huntington's Disease

(2009) John S. Bett et al.   PLoS One

Accumulation of ubiquitin conjugates in a polyglutamine disease model occurs without global ubiquitin/proteasome system impairment

(2009) C. J. Maynard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expression of mutant huntingtin in mouse brain astrocytes causes age-dependent neurological symptoms

(2009) Jennifer Bradford et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons

(2008) Emilie Colin et al.   EMBO JOURNAL

Proteomic and oxidative stress analysis in human brain samples of Huntington disease

(2008) M Alba Sorolla et al.   FREE RADICAL BIOLOGY AND MEDICINE

Effects of overexpression of Huntingtin proteins on mitochondrial integrity

(2008) Hongmin Wang et al.   HUMAN MOLECULAR GENETICS

Single Neuron Ubiquitin-Proteasome Dynamics Accompanying Inclusion Body Formation in Huntington Disease

(2008) Siddhartha Mitra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

(2008) Maria Björkqvist et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Differential Activities of the Ubiquitin-Proteasome System in Neurons versus Glia May Account for the Preferential Accumulation of Misfolded Proteins in Neurons

(2008) S. Tydlacka et al.   JOURNAL OF NEUROSCIENCE

Expanded-Polyglutamine Huntingtin Protein Suppresses the Secretion and Production of a Chemokine (CCL5/RANTES) by Astrocytes

(2008) S.-Y. Chou et al.   JOURNAL OF NEUROSCIENCE

N-Terminal Mutant Huntingtin Associates with Mitochondria and Impairs Mitochondrial Trafficking

(2008) A. L. Orr et al.   JOURNAL OF NEUROSCIENCE

The current clinical management of Huntington's disease

(2008) Wendy Phillips et al.   MOVEMENT DISORDERS

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

Weight loss in Huntington disease increases with higher CAG repeat number

(2008) N. A. Aziz et al.   NEUROLOGY

Huntington's disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies

(2008) J. N. Savas et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss-and-Run Fusion with Lysosomes

(2008) Luca Jahreiss et al.   TRAFFIC

A microRNA-based gene dysregulation pathway in Huntington's disease

(2007) Rory Johnson et al.   NEUROBIOLOGY OF DISEASE