Marcy E. MacDonald

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

TRACE is an open-source software that quantifies somatic instability of tandem repeats using capillary electrophoresis data, providing accessible tools for analyzing repeat expansion.

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

This paper investigates the protective effect of the LIG1 K845N variant in Huntington's disease by showing it increases ligase fidelity and suppresses somatic CAG repeat expansion.

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing

The paper identifies genetic modifiers of Huntington's disease somatic CAG repeat instability using CRISPR-Cas9 in HD knock-in mice, revealing new therapeutic targets.

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

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

This study shows splice modulators like branaplam reduce HTT CAG repeat expansion by affecting PMS1 expression, suggesting PMS1 as a new therapeutic target for Huntington's disease.

Evidence for glutamate excitotoxicity that occurs before the onset of striatal cell loss and motor symptoms in an ovine Huntington's Disease model.

The paper identifies transcriptional upregulation of glutamate receptors and downregulation of oxidative phosphorylation in an ovine HD model before neuronal loss and motor symptoms.

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

The paper identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

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

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington's disease

This study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

Hypomorphic mutation of the mouse Huntingtons disease gene orthologue

This study investigates the developmental effects of hypomorphic mutations in the mouse HD gene orthologue, revealing varying degrees of lethality and developmental abnormalities depending on mutation severity.

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.

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

This study shows that B6.HttQ111/+ mice exhibit early transcriptional and proteostatic deficits before synapse loss and neurodegeneration in HD.

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

The paper builds genome-scale transcriptional regulatory networks for mouse and human striatum, identifying SMAD3 as a key regulator in Huntington’s disease.