Luc Pregent
A5075773710- Redox biology and oxidative stress
- Retinal Development and Disorders
- bioluminescence and chemiluminescence research
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Glutathione Transferases and Polymorphisms
- Parkinson's Disease Mechanisms and Treatments
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Neuroinflammation and Neurodegeneration Mechanisms
- Retinoids in leukemia and cellular processes
- Connexins and lens biology
- Alzheimer's disease research and treatments
- Genomics and Chromatin Dynamics
- biodegradable polymer synthesis and properties
- Prion Diseases and Protein Misfolding
- RNA modifications and cancer
Mayo Clinic in Florida
2013-2024
Jacksonville College
2013-2023
Individuals carrying (GGGGCC) expanded repeats in the C9orf72 gene represent a significant portion of patients suffering from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Elucidating how these cause "c9FTD/ALS" has since become an important goal field. Toward this end, we sought to investigate whether epigenetic changes are responsible for decrease expression levels observed c9FTD/ALS patients. We obtained brain tissue ten individuals, nine FTD/ALS cases without...
Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics treating C9ORF72 -associated amyotrophic lateral sclerosis.
The human genome contains "dark" gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these may relevant to disease. Here, we identify with few mappable reads call dark by depth, and others have ambiguous alignment, called camouflaged. We assess how well long-read linked-read technologies resolve regions. Based on whole-genome Illumina data, 36,794 in 6054 bodies pathways...
An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9FTD/ALS). Therapeutics are being developed to target RNAs containing the sequence (GGGGCC); however, this approach is complicated by presence of antisense strand transcription GGCCCC repeats. We found that targeting elongation factor Spt4 selectively decreased production both sense transcripts, as well their translated dipeptide (DPR) products, also mitigated degeneration animal...
Abstract A repeat expansion in the C9orf72 (C9) gene is most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate single nucleus transcriptomics (snRNA-seq) epigenomics (snATAC-seq) postmortem motor frontal cortices from C9-ALS, C9-FTD, control donors. C9-ALS donors present pervasive alterations expression with concordant changes chromatin accessibility histone modifications. The greatest occur upper deep layer excitatory neurons,...
Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two devastating fatal neurodegenerative conditions. While distinct, they share many clinical, genetic, pathological characteristics 1 , both show selective vulnerability of layer 5b extratelencephalic-projecting cortical populations, including Betz cells in ALS 2,3 von Economo neurons (VENs) FTLD 4,5 . Here, we report the first high resolution single-cell atlas human primary motor cortex (MCX) its...
Abstract Background The human genome contains ‘dark’ gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these may relevant to disease. Here, we identify are ‘dark by depth’ (few mappable reads) and others ‘camouflaged’ (ambiguous alignment), assess how well long-read technologies resolve regions. We further present an algorithm most camouflaged (including in data) apply it the...
Abstract Neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), are strongly influenced by inherited genetic variation, but environmental epigenetic factors also play key roles in the course of these diseases. A hexanucleotide repeat expansion C9orf72 (C9) gene is most common cause ALS FTD. To determine cellular alterations associated with C9 expansion, we performed single nucleus transcriptomics (snRNA-seq) epigenomics (snATAC-seq)...