V. Wheeler

发表

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

M. MacDonald, D. Brunner, J. Gusella, 2016, Nature Biotechnology.

Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.

M. MacDonald, A. Sharp, F. Persichetti, 2000, Human molecular genetics.

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

Edith T. Lopez, K. Lunetta, T. Gillis, 2009, Neurobiology of Disease.

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

Jane S. Paulsen, J. Mysore, M. MacDonald, 2003, American journal of human genetics.

Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models

M. MacDonald, D. Brunner, A. Tobin, 2009, Neurobiology of Disease.

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.

Jacqueline K. White, A Auerbach, M. MacDonald, 1999, Human molecular genetics.

Amplification-free, CRISPR-Cas9 Targeted Enrichment and SMRT Sequencing of Repeat-Expansion Disease Causative Genomic Regions

Tyson A. Clark, J. Korlach, R. Sebra, 2017, bioRxiv.

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

Jane S. Paulsen, Eun Pyo Hong, P. Holmans, 2019, Cell.

HttQ111/+ Huntington’s Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction

L. Raymond, T. Gillis, M. MacDonald, 2018, Journal of Huntington's disease.

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

Jane S. Paulsen, Peter Holmans, Richard H. Myers, 2015, Cell.

A novel approach to investigate tissue-specific trinucleotide repeat instability

Jie Zhang, John R. Walker, Andrew I. Su, 2010, BMC Systems Biology.

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Trisha J. Multhaupt-Buell, T. Gillis, R. Yadav, 2022, bioRxiv.

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Trisha J. Multhaupt-Buell, T. Gillis, R. Yadav, 2022, bioRxiv.

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

S. Haggarty, S. Erdin, M. Talkowski, 2020, eLife.

Somatic CAG expansion in Huntington’s disease is dependent on the MLH3 endonuclease domain, which can be excluded via MLH3 splice redirection to suppress expansion

P. Cohen, V. Wheeler, R. M. Pinto, 2020, bioRxiv.

Huntingtin lowering reduces somatic instability at CAG-expanded loci

D. Marchionini, S. Tabrizi, S. Zeitlin, 2020, bioRxiv.

Msh 2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington ' s disease knockin mice

T. Gillis, R. Kucherlapati, M. Kucherlapati, 2018 .

High resolution time‐course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock‐in mice across multiple genetic backgrounds

John C. Earls, L. Hood, D. Geman, 2017, Human molecular genetics.

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice

T. Gillis, B. Lager, V. Wheeler, 2016, Genetics.

Chromosome substitution strain assessment of a Huntington’s disease modifier locus

T. Gillis, J. Mysore, M. MacDonald, 2015, Mammalian Genome.

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice

T. Gillis, R. Kucherlapati, M. Kucherlapati, 2012, PloS one.

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

T. Gillis, V. Wheeler, Jong-Min Lee, 2011, PloS one.

Stoichiometry of Base Excision Repair Proteins Correlates with Increased Somatic CAG Instability in Striatum over Cerebellum in Huntington's Disease Transgenic Mice

David M. Wilson, B. Berquist, K. Merienne, 2009, PLoS genetics.

Huntingtin Facilitates Polycomb Repressive Complex 2 Citation

M. MacDonald, R. Kingston, Ji-Joon Song, 2022 .

Huntingtin facilitates polycomb repressive complex 2

M. MacDonald, R. Kingston, Ji-Joon Song, 2009, Human molecular genetics.

A modifier of Huntington's disease onset at the MLH1 locus

P. Holmans, T. Gillis, M. MacDonald, 2017, Human molecular genetics.

Genome-scale transcriptional regulatory network models for the mouse and human striatum predict roles for SMAD3 and other transcription factors in Huntington’s disease

L. Hood, N. Baliga, N. Price, 2016, bioRxiv.

Identification of genetic modifiers of somatic CAG instability in Huntington's Disease by in vivo CRISPR - Cas9 genome editing: PS238.

V. Wheeler, M. Pinto, F. Zhang, 2017, Porto biomedical journal.

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

T. Gillis, R. Yadav, L. Ozelius, 2022, Acta Neuropathologica Communications.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

K. Roeder, J. Levin, L. Klei, 2014, American journal of human genetics.

Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System

Edith T. Lopez, Larissa A. Haliw, H. Fuchs, 2012, PloS one.

Transcriptional regulatory networks underlying gene expression changes in Huntington's disease

Seth A Ament, Nathan D Price, Nitin S Baliga, 2018, Molecular systems biology.

Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes.

T. Gillis, J. Mysore, M. MacDonald, 2012, Cell stem cell.

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Jane S. Paulsen, P. Holmans, M. MacDonald, 2022, Nature Neuroscience.

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease

Jane S. Paulsen, P. Holmans, M. MacDonald, 2021, bioRxiv.

Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models

V. Wheeler, Vincent Dion, 2021, Journal of Huntington's disease.

A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths

R. Truant, V. Mattis, T. Maiuri, 2018, bioRxiv.

Huntington’s Disease

M. MacDonald, J. Gusella, V. Wheeler, 2007, NeuroMolecular Medicine.

Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease

L. Jones, C. E. Pearson, V. Wheeler, 2021, Journal of Huntington's disease.

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

Jane S. Paulsen, P. Holmans, T. Gillis, 2019, Biological Psychiatry.

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

A. Morton, William Tottey, V. Wheeler, 2021, Journal of Huntington's disease.

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

T. Gillis, J. Mysore, H. Orr, 2020, Human molecular genetics.

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

Audrey E Hendricks, Tammy Gillis, T. Gillis, 2009, Human molecular genetics.

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

Edith T. Lopez, M. Daly, T. Gillis, 2013, PLoS genetics.

Genetic modifiers of Huntington's disease differentially influence motor and cognitive domains

Jane S. Paulsen, P. Holmans, T. Gillis, 2022, medRxiv.

Defective linear and circular RNAs biogenesis in Huntington’s disease: CAG repeat expansion hijacks neuronal splicing

C. Dieterich, E. Dassi, S. Piazza, 2021 .

Population-specific genetic modification of Huntington's disease in Venezuela

L. Hood, J. Roach, P. Holmans, 2018, PLoS genetics.

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.

M. MacDonald, A. Joyner, S. Hersch, 2000, Human molecular genetics.

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.

M. MacDonald, V. Wheeler, Allison M Teed, 2003, Human molecular genetics.

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

P. Cohen, V. Wheeler, M. Kovalenko, 2021, Nucleic acids research.

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.

P. Holmans, M. MacDonald, J. Gusella, 2015, Journal of Huntington's disease.

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Jane S. Paulsen, T. Gillis, J. Mysore, 2006, BMC Medical Genetics.

Neocortical neurons cultured from mice with expanded cag repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults

M. MacDonald, D. Choi, B. Snider, 2003, Neuroscience.

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.

M. MacDonald, D. Borchelt, S. Hersch, 2002, Human molecular genetics.

Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.

P. Holmans, M. MacDonald, J. Long, 2021, Journal of Huntington's disease.

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

A. Bang, V. Wheeler, D. Cleveland, 2017, Neuron.

Assessing average somatic CAG repeat instability at the protein level

V. Wheeler, P. Vodička, E. Sapp, 2019, Scientific Reports.

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG)

K. Lunetta, M. MacDonald, J. Gusella, 2009, American journal of medical genetics. Part A.

Chromosome substitution strain assessment of a Huntington’s disease modifier locus

T. Gillis, J. Mysore, M. MacDonald, 2015, Mammalian Genome.

A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice

Edith T. Lopez, H. Fuchs, T. Gillis, 2013, PloS one.

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.

Edith T. Lopez, T. Gillis, M. MacDonald, 2006, Human molecular genetics.

Genetic overlap between psychiatric disorders and neuropsychiatric symptoms in HD

Jane S. Paulsen, P. Holmans, T. Gillis, 2019 .

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Trisha J. Multhaupt-Buell, T. Gillis, L. Ozelius, 2022, Acta neuropathologica communications.

Factors associated with HD CAG repeat instability in Huntington disease

J. Mysore, M. MacDonald, J. Gusella, 2007, Journal of Medical Genetics.

Huntington’s Disease Pathogenesis: Two Sequential Components

P. Holmans, M. MacDonald, J. Long, 2021, Journal of Huntington's disease.

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

T. Gillis, J. Mysore, M. MacDonald, 2020, Human molecular genetics.

Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington’s disease

Cory C. Funk, N. Price, M. MacDonald, 2016, Scientific Reports.

Haplotype-based stratification of Huntington's disease

P. Holmans, T. Gillis, J. Mysore, 2017, European Journal of Human Genetics.

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

M. MacDonald, M. Hayden, R. Schwarcz, 2006, Neurobiology of Disease.

The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.

M. MacDonald, A. Joyner, D. Turnbull, 2001, Human molecular genetics.

Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models*

R. Schiffmann, A. Durr, James P. O'Callaghan, 2011, The Journal of Biological Chemistry.

Huntington's disease.

M. MacDonald, J. Gusella, V. Wheeler, 1995, Neuromolecular medicine.

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.

M. MacDonald, I. Kohane, K. Coser, 2011, Human molecular genetics.

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.

M. MacDonald, J. Gusella, F. Persichetti, 2003, Human molecular genetics.

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.

J. Mysore, M. MacDonald, J. Gusella, 2002, Human molecular genetics.

Polyglutamine-Expanded H untingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport Highlights

A. Bang, V. Wheeler, D. Cleveland, 2017 .

HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes

M. MacDonald, I. Kohane, K. Coser, 2014, PloS one.

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.

Bin Zhang, T. Gillis, M. MacDonald, 2013, Human molecular genetics.

The HD Mutation Does Not Alter Neuronal Death in the Striatum of HdhQ92 Knock-in Mice after Mild Focal Ischemia

M. MacDonald, M. Moskowitz, F. Persichetti, 2002, Neurobiology of Disease.

Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse

Jason S. Mitchell, H. Zoghbi, J. Ervasti, 2023, bioRxiv.

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

Jane S. Paulsen, P. Holmans, T. Gillis, 2019, Cell.

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

Jane S. Paulsen, P. Holmans, T. Gillis, 2019, Cell.

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

T. Gillis, M. MacDonald, J. Gusella, 2023, bioRxiv.

Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease

B. Kleinstiver, V. Wheeler, Jong-Min Lee, 2023, bioRxiv.

Population-specific genetic modification of Huntington ' s disease in Venezuela 1 2

J. Roach, P. Holmans, M. MacDonald, 2018 .

High resolution time‐course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock‐in mice across multiple genetic backgrounds

John C. Earls, L. Hood, D. Geman, 2017, Human molecular genetics.

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.

Bin Zhang, T. Gillis, M. MacDonald, 2013, Human molecular genetics.

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.

T. Gillis, J. Mysore, M. MacDonald, 2022, American journal of human genetics.

Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington’s Disease

T. Gillis, M. MacDonald, V. Wheeler, 2024, Journal of Huntington's disease.

CAG repeat expansion in the Huntington’s disease gene shapes linear and circular RNAs biogenesis

V. Wheeler, E. Kerschbamer, J. Döring, 2023, PLoS genetics.

Modification of Huntington’s disease by short tandem repeats

T. Gillis, M. MacDonald, J. Gusella, 2024, Brain communications.

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

M. MacDonald, D. Brunner, J. Gusella, 2016, Nature Biotechnology.

Modiﬁers of CAG/CTG Repeat Instability: Insights from Mammalian Models

V. Wheeler, Vincent Dion, 2022 .

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.

M. MacDonald, I. Kohane, K. Coser, 2011, Human molecular genetics.

Motivational, proteostatic and transcriptional deficits precede Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt synapse loss, gliosis and neurodegeneration in the B6.Htt

Cory C. Funk, S. Minnig, V. Wheeler, 2022 .

Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington’s disease

V. Wheeler, Jong-Min Lee, Doo Eun Choi, 2024, eLife.