Kia H. Markussen

Neural Metabolic Networks: Key Elements of Healthy Brain Function

Nimrod Madrer, Nirma D. Perera, Nonthué A. Uccelli, Alice Abbondanza et autres

Neural networks are responsible for processing sensory stimuli and driving the synaptic activity required for brain function and behavior. This computational capacity is expensive and requires a steady supply of energy and building blocks to operate. Importantly, the neural networks are composed …

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Protocol for high-power, brain-focused microwave fixation to define rodent metabolism

Alex R. Cantrell, Tara R. Hawkinson, Jelena A. Juras, Madison B. Webb et autres

Analysis of metabolites provides key insights into brain physiology and function. Due to post-mortem metabolism, both the euthanasia method and dissection time can make a critical difference. Here, we describe a protocol to euthanize rodents by microwave irradiation. This workflow details steps …

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Author response for "Neural Metabolic Networks: Key Elements of Healthy Brain Function"

Nimrod Madrer, Nirma D. Perera, Nonthué A. Uccelli, Alice Abbondanza et autres

Treating Lafora Disease with an Antibody-Enzyme Fusion

Matthew S. Gentry, Kia H. Markussen, Ramon C. Sun, Craig W. Vander Kooi

Abstract Lafora disease (LD) is a horrendous progressive myoclonic epilepsy that strikes healthy teenagers and leads to ever-worsening seizures with no relief from antiepileptic drugs; it then transitions to rapid dementia that ends in death typically after 10 years of onset. LD …

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model

Katherine J. Donohue, Bethany Fitzsimmons, Ronald C. Bruntz, Kia H. Markussen et autres

Patients with Lafora disease have a mutation in EPM2A or EPM2B, resulting in dysregulation of glycogen metabolism throughout the body and aberrant glycogen molecules that aggregate into Lafora bodies. Lafora bodies are particularly damaging in the brain, where the aggregation drives seizures …

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The multifaceted roles of the brain glycogen

Kia H. Markussen, Manuela Corti, Barry J. Byrne, Craig W. Vander Kooi et autres

Glycogen is a biologically essential macromolecule that is directly involved in multiple human diseases. While its primary role in carbohydrate storage and energy metabolism in the liver and muscle is well characterized, recent research has highlighted critical metabolic and non-metabolic roles for …

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Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis

Lindsey R. Conroy, Harrison A. Clarke, Derek B. Allison, Samuel Santos Valença et autres

Matrix assisted laser desorption/ionization imaging has greatly improved our understanding of spatial biology, however a robust bioinformatic pipeline for data analysis is lacking. Here, we demonstrate the application of high-dimensionality reduction/spatial clustering and histopathological annotation of matrix assisted laser desorption/ionization imaging datasets …

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In situ microwave fixation provides an instantaneous snapshot of the brain metabolome

Jelena A. Juras, Madison B. Webb, Lyndsay E.A. Young, Kia H. Markussen et autres

Brain glucose metabolism is highly heterogeneous among brain regions and continues postmortem. In particular, we demonstrate exhaustion of glycogen and glucose and an increase in lactate production during conventional rapid brain resection and preservation by liquid nitrogen. In contrast, we show that …

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Abstract 1973: Defining metabolic perturbations in neurological glycogen storage diseases elucidates therapeutic options

Matthew S. Gentry, Kia H. Markussen, Lyndsay E.A. Young, Kit Donohue et autres

Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency

Qian Ma, Levi B. Good, Gauri Kathote, Vikram Jakkamsetti et autres

Individuals with glucose transporter type I deficiency (G1D) habitually experience nutrient-responsive epilepsy associated with decreased brain glucose. However, the mechanistic association between blood glucose concentration and brain excitability in the context of G1D remains to be elucidated. Electroencephalography (EEG) in G1D individuals …

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In Situ Microwave Fixation to Define the Terminal Rodent Brain Metabolome

Jelena A. Juras, Madison B. Webb, Lyndsay E.A. Young, Kia H. Markussen et autres

ABSTRACT The brain metabolome directly connects to brain physiology and neuronal function. Brain glucose metabolism is highly heterogeneous among brain regions and continues postmortem. Therefore, challenges remain to capture an accurate snapshot of the physiological brain metabolome in healthy and diseased rodent …

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Elucidating the Role of Glycogen in Glucose Transporter 1 Deficiency Syndrome

Meredith Williams, Kia H. Markussen, Madison B. Webb, Annette Mestas et autres

Glucose Transporter 1 Deficiency Syndrome (G1D) is a rare genetic disorder characterized by impaired brain glucose metabolism caused by mutations in the SLC2A1 gene. Mutations in the SLC2A1 gene lead to reduced or loss of function in the glucose transporter protein type …

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