Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

Systemic Brain Delivery of Antisense Oligonucleotides across the Blood-Brain Barrier with a Glucose-Coated Polymeric Nanocarrier

(2020) Hyun Su Min et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Lack of RAN-mediated toxicity in Huntington’s disease knock-in mice

(2020) Su Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The current state and future directions of RNAi-based therapeutics

(2019) Ryan L. Setten et al.   NATURE REVIEWS DRUG DISCOVERY

Adeno-associated virus vector as a platform for gene therapy delivery

(2019) Dan Wang et al.   NATURE REVIEWS DRUG DISCOVERY

Therapeutic Antisense Oligonucleotides Are Coming of Age

(2019) C. Frank Bennett   Annual Review of Medicine

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

(2019) Galen E.B. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Huntingtin Lowering Strategies for Disease Modification in Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEURON

Targeting Huntingtin Expression in Patients with Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEW ENGLAND JOURNAL OF MEDICINE

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

(2019) Michael Flower et al.   BRAIN

CRISPR babies: when will the world be ready?

(2019) Heidi Ledford   NATURE

Mutant huntingtin disrupts mitochondrial proteostasis by interacting with TIM23

(2019) Svitlana Yablonska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

(2019) Jong-Min Lee et al.   CELL

The Role of Microglia and Astrocytes in Huntington’s Disease

(2019) Thulani H. Palpagama et al.   Frontiers in Molecular Neuroscience

The central role of DNA damage and repair in CAG repeat diseases

(2018) Thomas H. Massey et al.   Disease Models & Mechanisms

FAN1 protects against repeat expansions in a Fragile X mouse model

(2018) Xiao-Nan Zhao et al.   DNA REPAIR

Recent progress and considerations for AAV gene therapies targeting the central nervous system

(2018) Erik Allen Lykken et al.   Journal of Neurodevelopmental Disorders

Clinical use of lentiviral vectors

(2018) Michael C. Milone et al.   LEUKEMIA

AAV5-miHTT Gene Therapy Demonstrates Broad Distribution and Strong Human Mutant Huntingtin Lowering in a Huntington’s Disease Minipig Model

(2018) Melvin M. Evers et al.   MOLECULAR THERAPY

Neurofilament light protein in blood predicts regional atrophy in Huntington disease

(2018) Eileanoir B. Johnson et al.   NEUROLOGY

Intravenous administration of the adeno-associated virus-PHP.B capsid fails to upregulate transduction efficiency in the marmoset brain

(2018) Yasunori Matsuzaki et al.   NEUROSCIENCE LETTERS

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform one

(2018) Anasheh Halabi et al.   NUCLEIC ACIDS RESEARCH

Biomarkers in early-phase trials: fundamental issues

(2018) Laura M Yee et al.   Bioanalysis

The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington’s disease patients

(2018) Seda Koyuncu et al.   Nature Communications

The CRISPR tool kit for genome editing and beyond

(2018) Mazhar Adli   Nature Communications

TDP43 nuclear export and neurodegeneration in models of amyotrophic lateral sclerosis and frontotemporal dementia

(2018) Hilary C. Archbold et al.   Scientific Reports

Adeno-Associated Viral Vector (Serotype 2)–Nerve Growth Factor for Patients With Alzheimer Disease

(2018) Michael S. Rafii et al.   JAMA Neurology

Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases

(2018) Magdalena Dabrowska et al.   Frontiers in Neuroscience

mHTT Seeding Activity: A Marker of Disease Progression and Neurotoxicity in Models of Huntington’s Disease

(2018) Anne Ast et al.   MOLECULAR CELL

The cryo-electron microscopy structure of huntingtin

(2018) Qiang Guo et al.   NATURE

Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington’s disease

(2018) Lauren M. Byrne et al.   Science Translational Medicine

FAN1 modifies Huntington’s disease progression by stabilising the expanded HTT CAG repeat

(2018) Robert Goold et al.   HUMAN MOLECULAR GENETICS

Spectrum of tau pathologies in Huntington’s disease

(2018) Swikrity Upadhyay Baskota et al.   LABORATORY INVESTIGATION

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease

(2018) Amber L. Southwell et al.   Science Translational Medicine

Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

(2018) Ralf Reilmann et al.   LANCET NEUROLOGY

Huntington's disease: a clinical review

(2017) P. McColgan et al.   EUROPEAN JOURNAL OF NEUROLOGY

AAV5-miHTT gene therapy demonstrates suppression of mutant huntingtin aggregation and neuronal dysfunction in a rat model of Huntington’s disease

(2017) J Miniarikova et al.   GENE THERAPY

Post-translational modifications clustering within proteolytic domains decrease mutant huntingtin toxicity

(2017) Nicolas Arbez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Post-Translational Modifications (PTMs), Identified on Endogenous Huntingtin, Cluster within Proteolytic Domains between HEAT Repeats

(2017) Tamara Ratovitski et al.   JOURNAL OF PROTEOME RESEARCH

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Therapies targeting DNA and RNA in Huntington's disease

(2017) Edward J Wild et al.   LANCET NEUROLOGY

Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis

(2017) Lauren M Byrne et al.   LANCET NEUROLOGY

Lipid Nanoparticle Systems for Enabling Gene Therapies

(2017) Pieter R. Cullis et al.   MOLECULAR THERAPY

CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo

(2017) Alex Mas Monteys et al.   MOLECULAR THERAPY

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease

(2017) Christophe Verny et al.   MOVEMENT DISORDERS

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

(2017) Carlo Rinaldi et al.   Nature Reviews Neurology

Motor, cognitive, and functional declines contribute to a single progressive factor in early HD

(2017) Scott A. Schobel et al.   NEUROLOGY

The CREST-E study of creatine for Huntington disease

(2017) Steven M. Hersch et al.   NEUROLOGY

Serum neurofilament light as a biomarker for mild traumatic brain injury in contact sports

(2017) Pashtun Shahim et al.   NEUROLOGY

Mutant Huntingtin Disrupts the Nuclear Pore Complex

(2017) Jonathan C. Grima et al.   NEURON

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

MutSβ abundance and Msh3 ATP hydrolysis activity are important drivers of CTG•CAG repeat expansions

(2017) Norma Keogh et al.   NUCLEIC ACIDS RESEARCH

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

(2017) Davina J. Hensman Moss et al.   Scientific Reports

The expanded CAG repeat in the huntingtin gene as target for therapeutic RNA modulation throughout the HD mouse brain

(2017) Nicole A. Datson et al.   PLoS One

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

(2017) Andreas Neueder et al.   Scientific Reports

Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington’s disease R6/2 mice

(2017) Rana Soylu-Kucharz et al.   Scientific Reports

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

RNA toxicity induced by expanded CAG repeats in Huntington's disease

(2016) Eulàlia Martí   BRAIN PATHOLOGY

Allele-Specific Reduction of the Mutant Huntingtin Allele Using Transcription Activator-Like Effectors in Human Huntington's Disease Fibroblasts

(2016) Kyle D. Fink et al.   CELL TRANSPLANTATION

O-GlcNAc-ylation in the Nuclear Pore Complex

(2016) Andrew Ruba et al.   Cellular and Molecular Bioengineering

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

(2016) Fernando Morales et al.   DNA REPAIR

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks

(2016) Meghan M. Slean et al.   DNA REPAIR

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Cerebrospinal fluid total tau concentration predicts clinical phenotype in Huntington's disease

(2016) Filipe Brogueira Rodrigues et al.   JOURNAL OF NEUROCHEMISTRY

A double-blind, randomized, cross-over, placebo-controlled, pilot trial with Sativex in Huntington’s disease

(2016) Jose Luis López-Sendón Moreno et al.   JOURNAL OF NEUROLOGY

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

(2016) Benjamin E Deverman et al.   NATURE BIOTECHNOLOGY

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

(2016) Yong-Jie Zhang et al.   NATURE NEUROSCIENCE

The nuclear pore complex: understanding its function through structural insight

(2016) Martin Beck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease

(2016) Andrew McGarry et al.   NEUROLOGY

PIAS1 Regulates Mutant Huntingtin Accumulation and Huntington’s Disease-Associated Phenotypes In Vivo

(2016) Joseph Ochaba et al.   NEURON

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

The Biology of Huntingtin

(2016) Frédéric Saudou et al.   NEURON

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

(2016) Suzan M. Hammond et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ablation of huntingtin in adult neurons is nondeleterious but its depletion in young mice causes acute pancreatitis

(2016) Guohao Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

α-Synuclein and huntingtin exon 1 amyloid fibrils bind laterally to the cellular membrane

(2016) Elodie Monsellier et al.   Scientific Reports

Brain-targeted delivery of resveratrol using solid lipid nanoparticles functionalized with apolipoprotein E

(2016) Ana Rute Neves et al.   JOURNAL OF NANOBIOTECHNOLOGY

Therapeutic advances in Huntington’s disease

(2016) Carlos Estévez-Fraga et al.   Expert Opinion on Orphan Drugs

Widespread AAV1- and AAV2-mediated transgene expression in the nonhuman primate brain: implications for Huntington's disease

(2016) Piotr Hadaczek et al.   Molecular Therapy-Methods & Clinical Development

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders

(2016) Marika Salvalaio et al.   PLoS One

DNA Triplet Repeat Expansion and Mismatch Repair

(2015) Ravi R. Iyer et al.   Annual Review of Biochemistry

The role of tau in the pathological process and clinical expression of Huntington’s disease

(2015) Romina Vuono et al.   BRAIN

An exploratory double-blind, randomized clinical trial with selisistat, a SirT1 inhibitor, in patients with Huntington's disease

(2015) Sigurd D. Süssmuth et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

DNA mismatch repair enzymes: Genetic defects and autoimmunity

(2015) Yoshinao Muro et al.   CLINICA CHIMICA ACTA

Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington’s disease patients

(2015) Edward J. Wild et al.   JOURNAL OF CLINICAL INVESTIGATION

Safety, tolerability, and efficacy of PBT2 in Huntington's disease: a phase 2, randomised, double-blind, placebo-controlled trial

(2015)   LANCET NEUROLOGY

Reactive Oxygen Species (ROS)-Activated ATM-Dependent Phosphorylation of Cytoplasmic Substrates Identified by Large-Scale Phosphoproteomics Screen

(2015) Sergei V. Kozlov et al.   MOLECULAR & CELLULAR PROTEOMICS

Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry

(2015) Chris Kay et al.   MOLECULAR THERAPY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Nuclear export inhibitors avert progression in preclinical models of inflammatory demyelination

(2015) Jeffery D Haines et al.   NATURE NEUROSCIENCE

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

(2015) Kristina Bečanović et al.   NATURE NEUROSCIENCE

RAN Translation in Huntington Disease

(2015) Monica Bañez-Coronel et al.   NEURON

Transcellular spreading of huntingtin aggregates in theDrosophilabrain

(2015) Daniel T. Babcock et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Large expansion of CTG•CAG repeats is exacerbated by MutSβ in human cells

(2015) Rie Nakatani et al.   Scientific Reports

Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression

(2015) Amber L. Southwell et al.   Scientific Reports

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

(2015) Fabian Hosp et al.   Cell Reports

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

Huntington disease

(2015) Gillian P. Bates et al.   Nature Reviews Disease Primers

Mutant huntingtin is present in neuronal grafts in huntington disease patients

(2014) Francesca Cicchetti et al.   ANNALS OF NEUROLOGY

Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane

(2014) H. Brandstaetter et al.   Disease Models & Mechanisms

The many faces of autophagy dysfunction in Huntington's disease: from mechanism to therapy

(2014) Constanza J. Cortes et al.   DRUG DISCOVERY TODAY

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

Mutant huntingtin alters Tau phosphorylation and subcellular distribution

(2014) David Blum et al.   HUMAN MOLECULAR GENETICS

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

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

Activation of IGF-1 and Insulin Signaling Pathways Ameliorate Mitochondrial Function and Energy Metabolism in Huntington’s Disease Human Lymphoblasts

(2014) Luana Naia et al.   MOLECULAR NEUROBIOLOGY

Intrajugular Vein Delivery of AAV9-RNAi Prevents Neuropathological Changes and Weight Loss in Huntington's Disease Mice

(2014) Brett D Dufour et al.   MOLECULAR THERAPY

Genetic modifiers of Huntington's disease

(2014) James F. Gusella et al.   MOVEMENT DISORDERS

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

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

Neuronal targets for reducing mutant huntingtin expression to ameliorate disease in a mouse model of Huntington's disease

(2014) Nan Wang 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

Regulation of microRNA biogenesis

(2014) Minju Ha et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Huntington disease: natural history, biomarkers and prospects for therapeutics

(2014) Christopher A. Ross et al.   Nature Reviews Neurology

Disease-associated CAG{middle dot}CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

(2014) M. Gomes-Pereira et al.   NUCLEIC ACIDS RESEARCH

YKL-40 in cerebrospinal fluid in Huntington's disease – A role in pathology or a nonspecific response to inflammation?

(2014) Tua Vinther-Jensen et al.   PARKINSONISM & RELATED DISORDERS

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

Ubiquitin–proteasome system involvement in Huntington’s disease

(2014) Zaira Ortega et al.   Frontiers in Molecular Neuroscience

Lynch Syndrome: An Updated Review

(2014) Rishabh Sehgal et al.   Genes

The Role of the Immune System in Huntington’s Disease

(2013) Gisa Ellrichmann et al.   Clinical & Developmental Immunology

PGC-1α, mitochondrial dysfunction, and Huntington's disease

(2013) Ashu Johri et al.   FREE RADICAL BIOLOGY AND MEDICINE

MeCP2: a novel Huntingtin interactor

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

Length-dependent CTG{middle dot}CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells

(2013) J. Du et al.   HUMAN MOLECULAR GENETICS

An N-terminal Nuclear Export Signal Regulates Trafficking and Aggregation of Huntingtin (Htt) Protein Exon 1

(2013) Zhiqiang Zheng 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

Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records

(2013) Stephen JW Evans et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Choosing an animal model for the study of Huntington's disease

(2013) Mahmoud A. Pouladi et al.   NATURE REVIEWS NEUROSCIENCE

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

Soluble forms of polyQ-expanded huntingtin rather than large aggregates cause endoplasmic reticulum stress

(2013) Julia Leitman et al.   Nature Communications

Pre-existing Anti–Adeno-Associated Virus Antibodies as a Challenge in AAV Gene Therapy

(2013) Vedell Louis Jeune et al.   Human Gene Therapy Methods

Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues

(2013) Michelle M. Axford et al.   PLoS Genetics

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches

(2013) Ricardo Mouro Pinto et al.   PLoS Genetics

MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice

(2013) Stéphanie Tomé et al.   PLoS Genetics

Fibrillar α-Synuclein and Huntingtin Exon 1 Assemblies Are Toxic to the Cells

(2012) Laura Pieri et al.   BIOPHYSICAL JOURNAL

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

(2012) Richard Grondin et al.   BRAIN

Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats

(2012) Chia-Rung Liu et al.   CELL

Single-Stranded RNAs Use RNAi to Potently and Allele-Selectively Inhibit Mutant Huntingtin Expression

(2012) Dongbo Yu et al.   CELL

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Defective mitochondrial disulfide relay system, altered mitochondrial morphology and function in Huntington's disease

(2012) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Human Mismatch Repair Protein hMutLα Is Required to Repair Short Slipped-DNAs of Trinucleotide Repeats

(2012) Gagan B. Panigrahi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of Novel Potentially Toxic Oligomers Formedin Vitrofrom Mammalian-derived Expanded huntingtin Exon-1 Protein

(2012) Leslie G. Nucifora et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of Feedback between Protein Kinase A and the Proteasome System Worsens Huntington's Disease

(2012) J.-T. Lin et al.   MOLECULAR AND CELLULAR BIOLOGY

Abnormal response to cortical activation in early stages of Huntington disease

(2012) Fanny Mochel et al.   MOVEMENT DISORDERS

Assessing unintended hybridization-induced biological effects of oligonucleotides

(2012) Morten Lindow et al.   NATURE BIOTECHNOLOGY

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

(2012) J.- M. Lee et al.   NEUROLOGY

“Huntingtin Holiday”: Progress toward an Antisense Therapy for Huntington's Disease

(2012) Xiao-Hong Lu et al.   NEURON

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

(2012) Holly B. Kordasiewicz et al.   NEURON

MutSβ and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells

(2012) Anne-Marie M. Gannon et al.   NUCLEIC ACIDS RESEARCH

Synthetic zinc finger repressors reduce mutant huntingtin expression in the brain of R6/2 mice

(2012) M. Garriga-Canut et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability

(2011) S. Tome et al.   HUMAN MOLECULAR GENETICS

Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage

(2011) U. Shirendeb 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

Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models

(2011) Fanny Mochel 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

Identifying polyglutamine protein species in situ that best predict neurodegeneration

(2011) Jason Miller et al.   Nature Chemical Biology

Induced pluripotent stem cell lines from Huntington's disease mice undergo neuronal differentiation while showing alterations in the lysosomal pathway

(2011) Valentina Castiglioni et al.   NEUROBIOLOGY OF DISEASE

Small Changes, Big Impact

(2011) Dagmar E. Ehrnhoefer et al.   NEUROSCIENTIST

Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria

(2011) D. D. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Discovery of Zinc Fingers and Their Applications in Gene Regulation and Genome Manipulation

(2010) Aaron Klug   Annual Review of Biochemistry

RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform

(2010) C. Frank Bennett et al.   Annual Review of Pharmacology and Toxicology

Allele-Selective Inhibition of MutantHuntingtinExpression with Antisense Oligonucleotides Targeting the Expanded CAG Repeat

(2010) Keith T. Gagnon et al.   BIOCHEMISTRY

Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans

(2010) Li-Chun Wang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation

(2010) Anna Seriola et al.   HUMAN MOLECULAR GENETICS

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

Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease

(2010) J. Kim 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

Proteolysis of Mutant Huntingtin Produces an Exon 1 Fragment That Accumulates as an Aggregated Protein in Neuronal Nuclei in Huntington Disease

(2010) Christian Landles et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Replication-dependent instability at (CTG)•(CAG) repeat hairpins in human cells

(2010) Guoqi Liu et al.   Nature Chemical Biology

Formation and Toxicity of Soluble Polyglutamine Oligomers in Living Cells

(2010) Patrick Lajoie et al.   PLoS One

CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches

(2009) Douglas R. Langbehn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Sustained effects of nonallele-specificHuntingtinsilencing

(2009) Valérie Drouet et al.   ANNALS OF NEUROLOGY

Five siRNAs Targeting Three SNPs May Provide Therapy for Three-Quarters of Huntington's Disease Patients

(2009) Edith L. Pfister et al.   CURRENT BIOLOGY

Diverse effects of individual mismatch repair components on transcription-induced CAG repeat instability in human cells

(2009) Yunfu Lin et al.   DNA REPAIR

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference

(2009) Maria Stella Lombardi et al.   EXPERIMENTAL NEUROLOGY

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

Huntingtin facilitates polycomb repressive complex 2

(2009) Ihn Sik Seong et al.   HUMAN MOLECULAR GENETICS

CTG/CAG Repeat Instability Is Modulated by the Levels of Human DNA Ligase I and Its Interaction with Proliferating Cell Nuclear Antigen

(2009) Arturo López Castel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nonallele-specific Silencing of Mutant and Wild-type Huntingtin Demonstrates Therapeutic Efficacy in Huntington's Disease Mice

(2009) Ryan L Boudreau et al.   MOLECULAR THERAPY

Recognizing and avoiding siRNA off-target effects for target identification and therapeutic application

(2009) Aimee L. Jackson et al.   NATURE REVIEWS DRUG DISCOVERY

Neural transplants in patients with Huntington's disease undergo disease-like neuronal degeneration

(2009) F. Cicchetti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Huntingtin as an essential integrator of intracellular vesicular trafficking

(2009) Juliane P. Caviston et al.   TRENDS IN CELL BIOLOGY

Detection of Alpha-Rod Protein Repeats Using a Neural Network and Application to Huntingtin

(2009) Gareth A. Palidwor et al.   PLoS Computational Biology

Prion Diseases: From Protein to Cell Pathology

(2008) Gabor G. Kovacs et al.   AMERICAN JOURNAL OF PATHOLOGY

Cerebral cortex and the clinical expression of Huntington's disease: complexity and heterogeneity

(2008) H. D. Rosas et al.   BRAIN

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

(2008) Emilie Colin et al.   EMBO JOURNAL

Identification and Allele-Specific Silencing of the Mutant Huntingtin Allele in Huntington's Disease Patient-Derived Fibroblasts

(2008) P.H.J. van Bilsen et al.   HUMAN GENE THERAPY

Delivery Vehicles for Small Interfering RNA In Vivo

(2008) Antonin R. de Fougerolles   HUMAN GENE THERAPY

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease

(2008) Chuan-En Wang et al.   HUMAN MOLECULAR GENETICS

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

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

AAV Vector–mediated RNAi of Mutant Huntingtin Expression Is Neuroprotective in a Novel Genetic Rat Model of Huntington's Disease

(2008) Nicholas R Franich et al.   MOLECULAR THERAPY

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

(2008) Ling-Bo Li et al.   NATURE

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

(2008) Ella Dragileva et al.   NEUROBIOLOGY OF DISEASE

Levels of the light subunit of neurofilament triplet protein in cerebrospinal fluid in Huntington's disease

(2008) Radu Constantinescu et al.   PARKINSONISM & RELATED DISORDERS

Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: Implications for the therapeutic development of RNAi

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

DNA instability in postmitotic neurons

(2008) R. Gonitel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phylogenetic Comparison of Huntingtin Homologues Reveals the Appearance of a Primitive polyQ in Sea Urchin

(2007) M. Tartari et al.   MOLECULAR BIOLOGY AND EVOLUTION