Katherine E. Irwin

ORCID: 0000-0001-8941-4557
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About
Contact & Profiles
Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Retinal Development and Disorders
  • Corneal surgery and disorders
  • Glaucoma and retinal disorders
  • Neurogenetic and Muscular Disorders Research
  • Turtle Biology and Conservation
  • RNA Research and Splicing
  • Neurobiology and Insect Physiology Research
  • Photochromic and Fluorescence Chemistry
  • Alzheimer's disease research and treatments
  • Corneal Surgery and Treatments
  • Muscle Physiology and Disorders
  • Connexins and lens biology
  • Prion Diseases and Protein Misfolding
  • Animal Disease Management and Epidemiology
  • Food Safety and Hygiene
  • Salmonella and Campylobacter epidemiology
  • Endoplasmic Reticulum Stress and Disease
  • Single-cell and spatial transcriptomics
  • Dementia and Cognitive Impairment Research
  • Functional Brain Connectivity Studies
  • Synthetic Organic Chemistry Methods
  • Inflammatory Myopathies and Dermatomyositis
  • Fish Biology and Ecology Studies
  • Veterinary Pharmacology and Anesthesia

Johns Hopkins Medicine
2023-2025

Johns Hopkins University
2023-2025

University of Georgia
2018-2025

Johns Hopkins Hospital
2024

University of Georgia
2018

University of Nebraska–Lincoln
2002

Although loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well documented in postmortem tissues amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), whether this abnormality occurs during early-stage disease remains unresolved. Cryptic exon inclusion reflects function TDP-43, thus detection proteins containing cryptic exon-encoded neoepitopes cerebrospinal fluid (CSF) or blood could reveal the earliest stages TDP-43 dysregulation patients. Here we use...

10.1038/s41591-023-02788-5 article EN cc-by Nature Medicine 2024-01-26

Loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well-documented in postmortem tissues amyotrophic lateral sclerosis (ALS), yet whether this abnormality occurs during early-stage disease remains unresolved. Cryptic exon inclusion reflects functional loss TDP-43, and thus detection cryptic exon-encoded peptides cerebrospinal fluid (CSF) could reveal the earliest stages TDP-43 dysregulation patients. Here, we use a newly characterized monoclonal antibody specific to...

10.1101/2023.01.23.525202 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2023-01-24

Inclusion body myositis (IBM) is an idiopathic inflammatory myopathy with muscle pathology characterized by endomysial inflammation, rimmed vacuoles, and cytoplasmic mislocalization of transactive response DNA-binding protein 43 (TDP-43). We aimed to determine whether loss TDP-43 splicing repression led the production "cryptic peptides" that could be detected in biopsies as a useful biomarker for IBM.

10.1002/ana.27167 article EN Annals of Neurology 2025-01-06

Nuclear clearance and cytoplasmic aggregation of TDP-43 in neurons, initially identified ALS-FTD, are hallmark pathological features observed across a spectrum neurodegenerative diseases. We previously found that loss-of-function leads to the transcriptome-wide inclusion deleterious cryptic exons brains biofluids post-mortem as well during presymptomatic stage but upstream mechanisms lead dysregulation remain unclear. Here, we developed web-based resource (SnapMine) determine levels exon...

10.1101/2024.03.27.587011 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2024-03-30

For all vertebrates, the anterior eye structures work together to protect and nourish while ensuring that light entering is correctly focused on retina. However, structure can vary significantly among different reflecting how of have evolved meet specific visual needs vertebrate species. Although conserved pathways regulate fundamental aspects development in there may also be species-specific differences underlying structural variation. Our knowledge cellular molecular mechanisms comes...

10.1111/joa.14226 article EN Journal of Anatomy 2025-02-04

Pronounced asymmetric changes in ocular globe size during eye development have been observed a number of species ranging from humans to lizards. In contrast, largely symmetric described for other like rodents. We propose that the three-dimensional structure developing correlate with types retinal remodeling needed produce areas high photoreceptor density. To test this idea, we systematically examined aspects as function bifoveated brown anole, Anolis sagrei.During embryonic development,...

10.1002/dvdy.348 article EN Developmental Dynamics 2021-04-18

Our objective was to optimize a protocol using rope devices designed detect Escherichia coli O157:H7 in feedlot pens by (1) determining if the number of influenced percent cattle sampled, (2) describing when contacted devices, and (3) time removal or recovery E. O157:H7. Overall, 2948 were observed 24 commercial pens, eight each autumn, winter summer. Three seven per pen placed near water tank over feed bunk approximately one hour prior sunset. Cattle for 2-hour period measure duration until...

10.21423/bovine-vol36no1p5-9 article EN cc-by-sa The Bovine Practitioner 2002-02-01

Abstract Background Anterior eye development has been explored in different vertebrate species ranging from fish to mammals. However, missing this diverse group is a representative of reptiles. A promising candidate fill void the brown anole, Anolis sagrei , which easily raised laboratory and for genome editing techniques exist. Here we provide detailed histological analysis anterior structures A. include cornea, iris, ciliary body, lens, trabecular meshwork, sclera ossicles. Results...

10.1101/2021.02.15.429783 preprint EN cc-by-nc bioRxiv (Cold Spring Harbor Laboratory) 2021-02-16

Abstract Background TDP‐43 nuclear clearance and cytoplasmic aggregation occur in an estimated 30‐60% of cases Alzheimer’s disease (AD), but this pathology can currently only be established at autopsy. Nuclear leads to inclusion cryptic exons pre‐mRNA, some which are spliced in‐frame translated into proteins carrying novel exon‐encoded epitopes. We developed a Meso Scale Discovery (MSD) ELISA against the TDP‐43‐associated neoepitope within HDGFL2 protein found significantly elevated levels...

10.1002/alz.094947 article EN cc-by Alzheimer s & Dementia 2024-12-01

Abstract Background The nuclear clearance and cytoplasmic aggregation of splicing repressor TAR DNA/RNA‐binding protein‐43 (TDP‐43) occur in approximately 50% Alzheimer’s disease (AD) cases about 45% frontotemporal dementia (FTD). However, it is not clear how early such mechanism occurs AD FTD as there no method detecting TDP‐43 dysregulation living individuals. Since the loss leads to cryptic exon inclusion, we propose that exon‐encoded peptides may be detected patient biofluids biomarkers...

10.1002/alz.087164 article EN cc-by Alzheimer s & Dementia 2024-12-01

Abstract The fovea, a pit in the retina, is crucial for high‐acuity vision humans and found eyes of other vertebrates, including certain primates, birds, lizards, fish. Despite its importance vision, our understanding mechanisms involved fovea development remains limited. Widely used ocular research models lack foveated studies on are mostly limited to histological molecular primates. As first step toward elucidating nonprimate we present detailed atlas retina bifoveated Anolis sagrei...

10.1111/joa.14193 article EN cc-by-nc-nd Journal of Anatomy 2024-12-26

Abstract Background The fovea, a pit in the retina, is believed to be important for high-acuity vision and feature found eyes of humans limited number vertebrate species that include certain primates, birds, lizards, fish. At present, model systems currently used ocular research lack foveated retina studies investigating fovea development have largely been histological molecular primates. As result, progress towards understanding mechanisms involved regulating completely lacking other,...

10.1101/2021.10.07.462409 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2021-10-09

Abstract Background Pronounced asymmetric changes in ocular globe size during eye development have been observed a number of species ranging from humans to lizards. In contrast, largely symmetric described for other like rodents. We propose that the three-dimensional structure developing correlate with types retinal remodeling needed produce areas high photoreceptor density. To test this idea, we systematically examined aspects as function bifoveated brown anole, Anolis sagrei . Results...

10.1101/2021.01.20.427408 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2021-01-21

Abstract Background TDP‐43 nuclear clearance and cytoplasmic aggregation occur in multiple neurodegenerative diseases, including amyotrophic lateral sclerosis‐frontotemporal dementia (ALS‐FTD), Alzheimer’s disease (AD), limbic‐predominant age‐related encephalopathy (LATE). Nuclear of leads to its failure repress splicing nonconserved cryptic exons. This loss repression is well‐documented postmortem tissues, but there currently no method detecting dysfunction living patients. As some exons...

10.1002/alz.082829 article EN Alzheimer s & Dementia 2023-12-01
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