Evan Udine
A5020150757- Neuroinflammation and Neurodegeneration Mechanisms
- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Tryptophan and brain disorders
- HIV Research and Treatment
- Cellular transport and secretion
- Immune cells in cancer
- Dementia and Cognitive Impairment Research
- Genetic Neurodegenerative Diseases
- Epigenetics and DNA Methylation
- Lysosomal Storage Disorders Research
- Bioinformatics and Genomic Networks
- Nuclear Receptors and Signaling
- Intracerebral and Subarachnoid Hemorrhage Research
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Autophagy in Disease and Therapy
- Neurological Disease Mechanisms and Treatments
- Stress Responses and Cortisol
Mayo Clinic in Florida
2021-2024
WinnMed
2021-2024
Jacksonville College
2024
Icahn School of Medicine at Mount Sinai
2018-2022
Allen Institute for Brain Science
2018-2022
Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson's disease (PD). GBA participates both endo-lysosomal pathway and immune response, two important mechanisms involved pathogenesis of PD. However, modifiers penetrance have not yet been fully elucidated.
Recent human genetic studies suggest that cells of the innate immune system have a primary role in pathogenesis neurodegenerative diseases. However, results from these often do not elucidate how variants affect biology to modulate disease risk. Here, we applied tensor decomposition method uncover associated gene networks linked distal variation stimulated monocyte and macrophage expression profiles. We report robust evidence some multiple genes trans. These include Parkinson's locus...
The G2019S mutation in the leucine-rich repeat kinase 2 (LRRK2) gene is a major risk factor for development of Parkinson's disease (PD). LRRK2, although ubiquitously expressed, highly abundant cells innate immune system. Given importance central and peripheral PD, we sought to investigate consequences on microglial monocyte transcriptome function. We have generated large-scale transcriptomic profiles isogenic human induced (iMGLs) patient derived monocytes carrying under baseline culture...
Abstract Background The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this in multiple tissues, technological limitations impeded researchers from exploring additional features, such as methylation levels. Methods We aimed characterize expansions using targeted, amplification-free long-read sequencing method. Our primary goal was determine presence...
Abstract An increasing number of identified Parkinson’s disease (PD) risk loci contain genes highly expressed in innate immune cells, yet their potential role pathological mechanisms is not obvious. We have generated transcriptomic profiles CD14 + monocytes from 230 individuals with sporadic PD and age-matched healthy subjects. dysregulation involved mitochondrial proteasomal function. also primary microglia autopsied brains 55 control subjects observed discordant signatures microglia....
Summary A G4C2 repeat expansion in the gene C9orf72 (C9) is most common genetic cause of sporadic and familial frontotemporal dementia (FTD) amyotrophic lateral sclerosis (ALS). What determines why cell death triggered only specific neuronal populations, while others remain ‘protected’ or are less susceptible to disease still an open question. In particular, whether it transcriptional response accumulation toxic insults initial cellular state that their vulnerability unknown. We have carried...
Abstract Recent human genetic studies suggest that cells of the innate immune system have a primary role in pathogenesis neurodegenerative diseases. However, results from these often do not elucidate how variants affect biology to modulate disease risk. Here, we applied tensor decomposition method uncover disease-associated gene networks linked distal variation stimulated monocytes and macrophages expression profiles. We report robust evidence some multiple genes trans . These include...
Abstract Background Genetic mutations in the beta-glucocerebrosidase (GCase), GBA gene, represent major genetic risk factor for Parkinson’s disease (PD). The function of gene is at crossroads between endo-lysosomal pathway and immune response, two important mechanisms involved pathogenesis PD. However, modifiers penetrance have not yet been fully elucidated. Methods we characterized transcriptomic profiles circulating monocytes whole blood a population patients with PD healthy controls...
Abstract A GGGGCC repeat expansion in C9orf72 is the most common genetic cause of ALS and FTD (C9ALS/FTD). The presence dipeptide (DPR) proteins, generated by translation expanded repeat, a major pathogenic feature C9ALS/FTD pathology, but their relevant effects physiological context are not known. Here, we DPR knock-in mouse models characterised expression 400 codon-optimised polyGR or polyPR repeats, heterozygous reduction. (GR)400 (PR)400 mice exhibit cortical neuronal hyperexcitability,...
Abstract Primary age-related tauopathy (PART) is a neurodegenerative with features distinct from but also overlapping Alzheimer disease (AD). While both exhibit Alzheimer-type temporal lobe neurofibrillary degeneration alongside amnestic cognitive impairment, PART develops independently of amyloid-β (Aβ) deposition in plaques. The pathogenesis unknown, evidence suggests it associated genes that promote tau pathology as well others protect Aβ toxicity. Here, we performed genetic association...
Tau neurofibrillary tangles and senile plaques comprised of insoluble amyloid beta are the major histopathological hallmarks Alzheimer's disease (AD). More than 85% autopsy-confirmed AD cases also exhibit some degree cerebral angiopathy (CAA), which is characterized by peptide deposits predominantly in blood vessels meningeal intracerebral vessels. Consequently, CAA predisposes individuals with to infarction hemorrhages, accounting for ∼20% elderly, could lead faster cognitive decline...