A5014107994- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Neuroinflammation and Neurodegeneration Mechanisms
- RNA Research and Splicing
- Abdominal vascular conditions and treatments
- Vascular anomalies and interventions
- Cholinesterase and Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Liver Disease and Transplantation
WinnMed
2025
Mayo Clinic in Florida
2022-2024
Jacksonville University
2023
Mayo Clinic in Arizona
2023
Frontotemporal dementia (FTD) therapy development is hamstrung by a lack of susceptibility, diagnostic, and prognostic biomarkers. Blood neurofilament light (NfL) shows promise as biomarker, but studies have largely focused only on core FTD syndromes, often grouping patients with different diagnoses. To expedite the clinical translation NfL, we avail ARTFL LEFFTDS Longitudinal Lobar Degeneration (ALLFTD) study resources conduct comprehensive investigation plasma NfL across syndromes in...
Abstract The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks several neurodegenerative diseases provide a defining criterion for the neuropathologic diagnosis Limbic-predominant Age-related Encephalopathy (LATE). LATE changes (LATE-NC) often comorbid with other pathologies including Alzheimer’s disease (ADNC). We examined whether regulated cryptic exons accumulate in hippocampus neuropathologically confirmed LATE-NC cases. found that RNAs robustly...
Repeat expansions in the C9orf72 gene are most common genetic cause of amyotrophic lateral sclerosis and familial frontotemporal dementia (ALS/FTD). To identify molecular defects that take place dorsolateral frontal cortex patients with ALS/FTD, we compared healthy controls ALS/FTD donor samples staged based on levels cortical phosphorylated TAR DNA binding protein (pTDP-43), a neuropathological hallmark disease progression. We identified distinct changes different cell types during FTD...
Arginine-rich dipeptide repeat proteins (R-DPRs), abnormal translational products of a GGGGCC hexanucleotide expansion in C9ORF72 , play critical role -related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), the most common genetic form disorders (c9ALS/FTD). R-DPRs liquid condensates vitro, induce stress granule formation cultured cells, aggregate, sometimes coaggregate with TDP-43 postmortem tissue from patients c9ALS/FTD. However, how these processes are regulated...
Abstract Repeat expansions in the C9orf72 gene are most common genetic cause of amyotrophic lateral sclerosis and familial frontotemporal dementia (ALS/FTD). To identify molecular defects that take place dorsolateral frontal cortex patients with ALS/FTD, we compared healthy controls ALS/FTD donor samples staged based on levels cortical phosphorylated TAR DNA binding protein (pTDP-43), a neuropathological hallmark disease progression. We identified distinct changes different cell types during...
A nucleotide repeat expansion (NRE) in the first annotated intron of