Author details

Full Name

Marcy E MacDonald

Affiliation

ORCID

Career Start Year

1986

Papers

255

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37547003	<i>PMS1</i> as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.	bioRxiv	2023
35908190	Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.	Hum Mol Genet	2023
35325614	Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.	American Journal of Human Genetics	2022
35379994	Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.	Nature Neuroscience	2022
35803234	Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration.	American Journal of Human Genetics	2022
34420978	A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis.	Journal of Huntington's disease	2021
34180418	Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.	Journal of Huntington's disease	2021
34169318	Huntington's disease: nearly four decades of human molecular genetics.	Human Molecular Genetics	2021
33579862	Huntington's Disease Pathogenesis: Two Sequential Components.	Journal of Huntington's disease	2021
33432339	Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.	Human Molecular Genetics	2021
32589923	Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.	American Journal of Human Genetics	2020
32087949	Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.	Biol Psychiatry	2020
32876667	Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.	Human Molecular Genetics	2020
31296921	Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.	Journal of Human Genetics	2019
30897080	Hypomorphic mutation of the mouse Huntington's disease gene orthologue.	PLoS Genet	2019
29581148	Transcriptional regulatory networks underlying gene expression changes in Huntington's disease.	Mol Syst Biol	2018
30122542	Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.	American Journal of Human Genetics	2018
29858077	Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity.	Molecular Therapy - Nucleic Acids	2018
29480209	HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction.	Journal of Huntington's disease	2018
29750799	Population-specific genetic modification of Huntington's disease in Venezuela.	PLoS Genet	2018
28176805	Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt<sup>Q111/+</sup> model of Huntington's disease.	Sci Rep	2017
28350386	Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt<sup>Q111/+</sup> model of Huntington's disease.	Sci Rep	2017
28334820	High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.	Hum Mol Genet	2017
28934397	A modifier of Huntington's disease onset at the MLH1 locus.	Human Molecular Genetics	2017
28832564	Haplotype-based stratification of Huntington's disease.	European Journal of Human Genetics	2017
29229845	Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.	Proceedings of the National Academy of Sciences of the United States of America	2017
28075486	Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening.	Current Protocols in Human Genetics	2017
28165127	Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.	Human Molecular Genetics	2017
28120936	Potential molecular consequences of transgene integration: The R6/2 mouse example.	Scientific Reports	2017
27983563	Important but not Enough - Information about HD Related Topics and Peer andÂ Professional Support for Young Adults from HD Families.	Journal of Huntington's disease	2016
26849111	The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.	American Journal of Human Genetics	2016
27376585	Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.	Nature Biotechnology	2016
26864449	Metabolic disruption identified in the Huntington's disease transgenic sheep model.	Scientific Reports	2016
27454300	Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.	PLoS One	2016
26569098	Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.	JAMA Neurol	2016
28172889	Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.	Human Molecular Genetics	2016
25168387	The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.	Human Molecular Genetics	2015
25656686	Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.	Am J Med Genet B Neuropsychiatr Genet	2015
25574027	Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.	Hum Mol Genet	2015
25726852	Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.	Bipolar Disord	2015
25645993	Chromosome substitution strain assessment of a Huntington's disease modifier locus.	Mammalian Genome	2015
25889241	miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement.	BMC Med Genomics	2015
26444025	The Genetic Modifiers of Motor OnsetAgeÂ (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.	Journal of Huntington's disease	2015
26320893	Sequence-Level Analysis of the Major European Huntington Disease Haplotype.	Am J Hum Genet	2015
26636579	RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.	PLoS One	2015
26295712	HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation.	PLoS One	2015
25154728	Genetic modifiers of Huntington's disease.	Movement Disorders	2014
25351248	Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease.	Science Signaling	2014
25300330	Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.	Journal of Huntington's disease	2014
24586208	MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis.	PLoS Genet	2014