Research Overview

Publications

2026

[ DOI] 10.1136/gutjnl-2025-336180

Indole-3-propionic acid links gut dysfunction to diabetic retinopathy: a biomarker and novel therapeutic approach

Journal: Gut
Published: April 7, 2026

Intervention with LP-ACE2, IPA and IW in db/db mice significantly enhanced gut barrier integrity, preserved retinal structure and function, and modulated immune responses

[DOI] 10.1038/s42255-026-01538-4

Hyperglycosylation is a metabolic driver of Alzheimer’s disease

Journal: Nature Metabolism
Published: June 9, 2026

Targeting hexosamine pathway-dependent N-glycosylation reduces
brain N-glycans and improves social memory in 5xFAD mice.

[DOI] 10.1021/jasms.5c00436

Mass Spectrometry-Based Spatial Imaging of the Cochlea

Journal: Journal of the American Society for Mass Spectrometry
Published: April 3, 2026

Flow scheme for acquisition, preparation, and MALDI-MSI data collection of mouse cochlea

[DOI] 10.1016/j.jbc.2025.111097

The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism

Journal: Journal of Biological Chemistry
Published: January 16, 2026

Laforin phosphatase activity is needed to preserve brain metabolism

[DOI] 10.1101/gr.281260.125

Reference-informed spatial domain detection using weak supervision for spatial transcriptomics

Journal: Genome Research
Published: June 3, 2026

Cell type composition delineates anatomical regions in Human Dorsolateral prefrontal cortex and1097 overview of GraphScrDom pipeline

[DOI]10.1146/annurev-nutr-062024-111053

Shaping Human Health and Nutrition Through Innovations in Spatial Metabolism

Journal: Annual Review of Nutrition
Published: May 19, 2026

Overview of the MALDI imaging workflow for spatial metabolomics

[DOI] 10.1016/j.cell.2026.01.022

Vitamin B2 and B3 nutrigenomics reveals a therapy for NAXD disease

Journal: Cell
Published: April 30, 2026

Serine is depleted in Naxd KO brains due to impaired NAD-dependent serine synthesis

[DOI] 10.1016/j.trsl.2026.02.008

Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI

Journal: Translational Research
Published: Feb 18, 2026

Representative glycoNOE maps of muscles from three slices, overlaid on the T2-weighted images.

[DOI] 10.1016/j.ccell.2025.12.012

Multiomic integration reveals tumoral heterogeneity of lipid dependence within lethal group 3 medulloblastoma

Journal: Cancer Cell
Published: Feb 9, 2026

Matrix-assisted laser desorption/ionization-mass spectrometry imaging (MALDI-MSI) on 5 G3p_a MBs and 5 G3p_c MBs

[DOI] 10.1038/s42255-026-01535-7

Glycogen drives the sensory activation of POMC neurons

Journal: Nature Metabolism
Published: May 27, 2026

Deletion of Gys1 in POMC neurons impairs feeding behaviour and
cephalic responses

2025

[DOI] 10.1038/s42255-025-01242-9

AI-driven framework to map the brain metabolome in three dimensions

Journal: Nature Metabolism
Published: 18 March 2025

Overview of Pathway Enrichment

[DOI] 10.1038/s41388-025-03297-0

GDP-mannose 4,6-dehydratase is a key driver of MYCN-amplified neuroblastoma core fucosylation and tumorigenesis

Journal: Nature Metabolism
Published: 16 February 2025

MALDI MSI Workflow

[DOI] 10.1038/s42255-025-01243-8

Glycogen drives tumor initiation and progression in lung adenocarcinoma

Journal: Nature Metabolism
Published: 11 March 2025

Intratumoural glycogen uniquely accumulates in LUAD

[DOI] 10.1038/s41467-025-59487-7

Spatial mapping of the brain metabolome lipidome and glycome

Journal: Nature Communications
Published: 12 May 2025

High-content spatial imaging of metabolome, lipidome, and glycome in a single mouse brain tissue.

[DOI] 10.3791/69154

Spatial Molecular Imaging of the Glycome using Mass Spectrometry

Journal: Journal of Visualized Experiments (JoVE)
Published: November 28, 2025

MALDI-MSI glycome analysis of mouse liver.

[doi] 10.1016/j.xpro.2025.103794

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

Journal: STAR Protocols
Published: June 20, 2025

Glycogen and N-linked glycan levels from microwave- and formalin-fixed brain tissue quantified by
MALDI-MSI

[DOI] 10.1016/j.trsl.2025.05.005

Predictive modeling of ARDS mortality integrating biomarker/cytokine, clinical and metabolomic data

Journal: Translational Research
Published: May 24, 2025

Spatial metabolomics and lipidomics analysis of porcine lung samples under normal, LPS/VILI, and eNAMPT mAb-treated conditions.

[DOI] 10.1016/j.ymthe.2025.06.022

Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease

Journal: Molecular Therapy
Published: September 9, 2025

[DOI] 10.3892/ol.2025.15159

Differential extracellular matrix proteomic signatures in colorectal tumors from Appalachian and non-Appalachian patients

Journal: Oncology Letters
Published: June 26, 2025

Complex peptide gradient patterns in CRC resections by collagen targeted mass spectrometry imaging.

[doi] 10.1021/acs.jmedchem.4c02580

Discovery and Evaluation of Active Site-Directed, Potent, and Selective Sulfophenyl Acetic Amide-Based Inhibitors for the Laforin Phosphatase

Journal: Journal of Medicinal Chemistry
Published: May 8, 2025

Representative predicted docking poses

[ DOI] 10.1111/jnc.70315

Considerations for Spatial Omics, Metabolite Analyses, and Tissue-Harvesting Artifacts

Journal: Journal of Neurochemistry
Published: December 5, 2025

Considerations for Spatial Omics, Metabolite Analyses, and Tissue-Harvesting Artifacts

2024

[DOI] 10.1016/j.eplepsyres.2024.107317

Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice

Epilepsy Research

Number of Lafora bodies 7 days after single ICV injection of alglucosidase alfa or vehicle

[DOI] 10.1111/jnc.15906

Glycogen accumulation modulates life span in a mouse model of amyotrophic lateral sclerosis

Journal of Neurochemistry

Glycogen granules in the SOD1G93A spinal cord are associated with reactive astrocytes

doi.org/10.1523/JNEUROSCI.1563-23.2024

Imbalance in glucose metabolism regulates the transition of microglia from homeostasis to disease-associated microglia stage 1

The Journal of Neuroscience

Upregulation of PKM2 in microglia in 5XFAD mice

https://doi.org/10.1172/jci.insight.184396

Knockdown of ketohexokinase versus inhibition of its kinase activity exert divergent effects on fructose metabolism

PubMed

RNA-Seq analysis

[DOI] 10.1101/2024.12.10.627800

Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease

bioRxiv

Representative photomicrographs of spinal cord tissue

[DOI] 10.1021/acschembio.4c00389

Alteration of Neuropilin-1 and Heparan Sulfate Interaction Impairs Murine B16 Tumor Growth

ACS Chemical Biology

Combinatorial virtual library screening (CVLS) and molecular dynamics (MD) based identification of binding sites, key amino acid residues, and minimal chain length

[DOI] 10.1016/j.neurot.2024.e00446

Neurological glycogen storage diseases and emerging therapeutics

Neurotherapeutics

Therapeutics in development for n-GSDs

[DOI] 10.3389/fcell.2024.1210944

The crosstalk between neuropilin-1 and tumor necrosis factor-α in endothelial cells

Frontiers in Cell and Developmental Biology

NRP1 and TNFRs are in the same protein complexes

[DOI] 10.1152/jn.00255.2023

Sex and APOE genotype influence respiratory function under hypoxic and hypoxic-hypercapnic conditions

Journal of Neurophysiology

Sex and APOE genotype influence respiratory function under hypoxic and hypoxic-hypercapnic conditions

[DOI] 10.1126/scitranslmed.adf1691

Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders

Science Translational Medicine

SRT, ERT, and combination therapy rescue of Pompe disease pathway biomarkers in gastrocnemius muscle

[DOI] 10.1111/jnc.15926

The multifaceted roles of the brain glycogen

Journal of Neurochemistry

Roles of glycogen in the brain

[DOI] 10.1038/s41594-023-01166-6

The Ruminococcus bromii amylosome protein Sas6 binds single and double helical α-glucan structures in starch

Nature Structural & Molecular Biology

RbCBM74 has an extended groove that accommodates starch double helices

[DOI] 10.1038/s41386-023-01718-w

Voltage-gated potassium channels control extended access cocaine seeking: a role for nucleus accumbens astrocytes

Neuropsychopharmacology

NAc dopamine metabolism differences after short and extended access cocaine

2023

[DOI] 10.1016/j.celrep.2023.112196

APOE modulates microglial immunometabolism in response to age, amyloid pathology, and inflammatory challenge

Cell Reports

View Publication

Spatial transcriptomics (ST) highlights unique cortical and hippocampal signatures of APOE4, age, and amyloid overexpression

[DOI] 10.1093/braincomms/fcad091

Cervical spinal cord injury leads to injury and altered metabolism in the lungs

Brain Communications

Changes in N-linked glycosylation in the left lung after SCI

[DOI] 10.1097/WCO.0000000000001187

Current avenues of gene therapy in Pompe disease

Current Opinion in Neurology

Preclinical and clinical strategies to treat Pompe disease

[DOI] 10.1007/s13311-023-01434-9

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

Neurotherapeutics

MALDI imaging of glycogen accumulation in mice

[DOI] 10.1016/j.crmeth.2023.100455

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

Cell Reports Methods

Microwave fixation

[DOI] 10.1038/s41419-023-06202-3

Inhibition of mitochondrial fission activates glycogen synthesis to support cell survival in colon cancer

Nature Cell Death & Disease

Depletion of Drp1 in APC-derived tumor organoids increases glycogen storage

[DOI] 10.1016/j.jhep.2023.02.010

Ketohexokinase-C regulates global protein acetylation to decrease carnitine palmitoyltransferase 1a-mediated fatty acid oxidation

Journal of Hepatology

Upregulation of KHK–C correlates with mitochondrial histology, but minimally affects TCA cycle and amino acid metabolism

[DOI] 10.1016/j.molmet.2023.101815

Loss of Carnitine Palmitoyltransferase 1a Reduces Docosahexaenoic Acid-Containing Phospholipids and Drives Sexually Dimorphic Liver Disease in Mice

Molecular Metabolism

LKO hepatocytes

[DOI] 10.1101/2023.11.27.568931

MetaVision3D: Automated Framework for the Generation of Spatial Metabolome Atlas in 3D

bioRxiv

MALDIalign for the automated alignment of serial MALDI imaging tissue sections

[DOI] 10.7554/eLife.81717

PASK links cellular energy metabolism with a mitotic self-renewal network to establish differentiation competence

eLife

Inhibition of PAS domain-containing kinase (PASK) preserves pluripotency, decreases muscle stem cell (MuSC) heterogeneity, and inhibits precocious differentiation

[DOI] 10.1186/s13023-023-02880-6

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data

Orphanet Journal of Rare Diseases

Schematic representation of the Lafora disease pathogenic variants in EPM2A and NHLRC1

[DOI] 10.1016/j.heliyon.2023.e20384

RIT1 deficiency alters cerebral lipid metabolism and reduces white matter tract oligodendrocytes and conduction velocities

Heliyon

RIT1KO does not affect overall corpus callosum thickness but reduces myelin protein levels

[DOI] 10.1101/2023.07.22.550155

Spatial Metabolome Lipidome and Glycome from a Single brain Section

bioRxiv

Spatial Augmented Multiomics Interface (Sami)

[DOI] 10.1038/s41467-023-38437-1

Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis

Nature Communications

High-dimensionality reduction and spatial clustering (HDR-SC) analysis of tissue sections from idiopathic pulmonary fibrosis (IPF) and COVID-19 patients

[DOI] 10.1101/2023.06.23.546264

Targeting the Microbiome to Improve Gut Health and Breathing Function After Spinal Cord Injury

bioRxiv

Targeting gut dysbiosis improves ventilatory function

2022

[DOI] 10.1038/s41418-022-00974-5

Activation of Drp1 promotes fatty acids-induced metabolic reprograming to potentiate Wnt signaling in colon cancer

Nature Cell Death & Differentiation

Knockdown of Drp1 blocks fatty acid-induced mitochondrial fission and fatty acid utilization

[DOI] 10.1016/j.neulet.2021.136428

Analysis of circulating metabolites to differentiate Parkinson’s disease and essential tremor

Neuroscience Letters

Dot blot analysis of α-synuclein in plasma and CSF of PD and ET A. Dot blot of α-synuclein in plasma using MJFR1 and anti-α-synuclein

[DOI] 10.1165/rcmb.2021-0465OC

ASK1 Regulates Bleomycin-induced Pulmonary Fibrosis

American Journal of Respiratory Cell and Molecular Biology

ASK1 (MAP3K5) Expression is Altered in Human Lung Fibrosis

[DOI] 10.1016/bs.acr.2022.02.005

High-dimensionality reduction clustering of complex carbohydrates to study lung cancer metabolic heterogeneity

Advances in Cancer Research

High-dimensionality reduction clustering (HDRC) analysis of MALDI-MSI lung cancer tissue identifies unique histopathology regions

[DOI] 10.15252/emmm.202216029

In situ mass spectrometry imaging reveals heterogeneous glycogen stores in human normal and cancerous tissues

EMBO Molecular Medicine

Five Ewing sarcoma tumor tissues with intratumoral microenvironmental glycogen

[DOI] 10.1002/alz.12523

In situ spatial glycomic imaging of mouse and human Alzheimer’s disease brains

Alzheimer’s & Dementia

Mouse Alzheimer's disease (AD) frontal cortices have increased N-linked glycans in multiple regions

[DOI] 10.1126/scitranslmed.abn2956

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

Science Translational Medicine

F-DG-PET in G1D

[DOI] 10.1007/978-1-0716-2030-4_15

Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry Imaging of Glycogen In Situ

Methods in Molecular Biology

MALDI-MSI of glycogen in WT and Alzheimer’s disease mouse models

[DOI] 10.21037/tlcr-22-292

NRF2-pathway mutations predict radioresistance in non-small cell lung cancer

Translational Lung Cancer Research

OS of NSCLC patients stratified by radiotherapy status in TCGA database

[DOI] 10.1016/j.jbc.2022.102089

The Toxoplasma glucan phosphatase TgLaforin utilizes a distinct functional mechanism that can be exploited by therapeutic inhibitors

Journal of Biological Chemistry

Toxoplasma gondii contains a hybrid starch metabolism machinery

[DOI] 10.3390/ijms23126510

Tissue-Specific Downregulation of Fatty Acid Synthase Suppresses Intestinal Adenoma Formation via Coordinated Reprograming of Transcriptome and Metabolism in the Mouse Model of Apc-Driven Colorectal Cancer

International Journal of Molecular Sciences

Heterozygous deletion of FASN increases mice survival and decreases the number of adenomas formed in the Apc-driven carcinogenesis mouse model

[DOI] 10.1007/s13311-022-01240-9

Two Diseases—One Preclinical Treatment Targeting Glycogen Synthesis

Neurotherapeutics

Glycogen metabolism

2021

[DOI] 10.1186/s13024-021-00483-y

APOΕ4 lowers energy expenditure in females and impairs glucose oxidation by increasing flux through aerobic glycolysis

Molecular Neurodegeneration

Single-cell RNA sequencing highlights E4-associated changes in glycolysis and oxidative phosphorylation in astrocytes

[DOI] 10.1016/j.isci.2021.103276

An empirical pipeline for personalized diagnosis of Lafora disease mutations

iScience

An empirical pipeline to facilitate LD personalized medicine

[DOI] 10.1093/brain/awab110

Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease

Brain

Accumulation of glycogen in the brains of 3-month-old mice

[DOI] 10.1016/j.cmet.2021.05.003

Brain glycogen serves as a critical glucosamine cache required for protein glycosylation

Cell Metabolism

MALDI-mass spectrometry imaging of glycogen and N-glycans

[DOI] 10.1021/acs.biochem.1c00307

Cooperative Kinetics of the Glucan Phosphatase Starch Excess4

ACS Biochemistry

Effects of glucan binding on SEX4 activity

[DOI] 10.1016/j.tem.2021.09.006

Emerging roles of N-linked glycosylation in brain physiology and disorders

Trends in Endocrinology & Metabolism

The unfolded protein response (UPR) and endoplasmic reticulum (ER) stress are at the crossroads of neuronal cell survival and cell death

[DOI] 10.18632/aging.202849

Enhancing lifespan of budding yeast by pharmacological lowering of amino acid pools

Aging

Mup1 biosynthesis and secretion appear unaffected by myriocin treatment

[DOI] 10.3390/cancers13092157

Evaluation of Glutaminase Expression in Prostate Adenocarcinoma and Correlation with Clinicopathologic Parameters

Cancers

Immunohistochemical analysis of GLS1 in prostate tissues

[DOI] 10.1016/j.clinbiochem.2021.03.017

Generation and characterization of a laforin nanobody inhibitor

Clinical Biochemistry

Anti-laforin nanobody guide tree

[DOI] 10.1038/s41419-021-04237-y

Hippocampal disruptions of synaptic and astrocyte metabolism are primary events of early amyloid pathology in the 5xFAD mouse model of Alzheimer’s disease

Nature Cell Death & Disease

Hippocampal and cerebral cortical amyloid-β (Aβ) burden, proteome and metabolome of 5xFAD mice

[DOI] 10.1158/1541-7786.MCR-20-0967

In Situ Analysis of N-Linked Glycans as Potential Biomarkers of Clinical Course in Human Prostate Cancer

Molecular Cancer Research

Prostate tumor tissue exhibits increased abundance of high-mannose and branched N-glycans proportional to tumor grade group

[DOI] 10.1126/sciadv.abi8602

Lactate supports a metabolic-epigenetic link in macrophage polarization

Science Advances

Prostate tumor tissue exhibits increased abundance of high-mannose and branched N-glycans proportional to tumor grade group

[DOI] 10.1016/j.jns.2021.117439

Purine synthesis as a target for radiation resistance in molecular glioblastoma

Journal of the Neurological Sciences

ACLY is required for maximal M2 macrophage polarization and tumor progression

[DOI] 10.1097/WCO.0000000000000901

Serotonergic therapy in epilepsy

Current Opinion in Neurology

Kaplan-Meier curves for overall survival based on IMPDH1 gene expression for molecular and histological subgroups of patients

[DOI] 10.1016/j.xpro.2021.100304

Regional N-glycan and lipid analysis from tissues using MALDI-mass spectrometry imaging

STAR Protocols

Schematic of brain injury, epilepsy, associated disorders, and subsequent altered serotonin transmission

[DOI] 10.1016/j.xpro.2021.100304

Regional N-glycan and lipid analysis from tissues using MALDI-mass spectrometry imaging

STAR Protocols

View Publication

PNGase F digestion and MALDI-MSI analysis of N-glycans in mouse brain tissue (Top) 2D plot of monoisotopic mass versus drift time in the ion mobility cell for N-glycans and the MALDI matrix. (Bottom)

[DOI] 10.1080/13816810.2021.1891552

Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome

Opthalmic Genetics

View Publication

Retinal imaging of right and left eyes

[DOI] 10.1016/j.yebeh.2021.107975

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure

Epilepsy & Behavior

View Publication

Lafora disease hallmarks discussed at the LECI meetings proposed by all labs participating in the Lafora Epilepsy Cure Initiative

2020

[DOI] 10.1016/j.carbpol.2019.115651

Accurate and sensitive quantitation of glucose and glucose phosphates derived from storage carbohydrates by mass spectrometry

Carbohydrate Polymers

Comparison between plant starch and mammalian liver glycogen

[DOI] 10.1016/j.nbd.2020.104742

APOE alters glucose flux through central carbon pathways in astrocytes

Neurobiology of Disease

Experimental design and fractional labeling methodology

[DOI] 10.3390/jcm9010138

Clear Cell Adenocarcinoma of the Urinary Bladder Is a Glycogen-Rich Tumor with Poorer Prognosis

Journal of Clinical Medicine

Kaplan–Meier curves and risk tables demonstrating survival for (A) muscle invasive cases of CCA defined by AJCC 6th stage II and III and (B) metastatic CCA cases defined by AJCC 6th stage IV

[DOI] 10.1074/jbc.RA119.011081

Improved workflow for mass spectrometry–based metabolomics analysis of the heart

Journal of Biological Chemistry

Metabolomics analysis of different heart extraction methods

[DOI] 10.1093/hmg/ddz280

Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides

Human Molecular Genetics

Subcellular localization of the G418-induced R493X readthrough and WT progranulin

[DOI] 10.3390/cancers12010237

Loss of Rb1 Enhances Glycolytic Metabolism in Kras-Driven Lung Tumors In Vivo

Cancers

Loss of Rb1 does not influence glutaminolysis in vivo

[DOI] 10.3390/metabo10120501

Oral Gavage Delivery of Stable Isotope Tracer for In Vivo Metabolomics

Metabolites

Oral Gavage Delivery of Stable Isotope Tracer for In Vivo Metabolomics

[DOI] 10.1194/jlr.ILR120000870

Spatial profiling of gangliosides in mouse brain by mass spectrometry imaging

Journal of Lipid Research

Spatial profiling of gangliosides in mouse brain by mass spectrometry imaging

[DOI] 10.1016/j.carbpol.2020.116260

Polyglucosan body structure in Lafora disease

Carbohydrate Polymers

A model for LB structure and formation, as in heart and brain

[DOI] 10.1016/j.yebeh.2019.106839

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Epilepsy & Behavior

A timeline of LD-related research

[DOI] 10.21037/atm.2020.01.130

The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation

Annals of Translational Medicine

Role of GP in nuclear glycogen

[DOI] 10.1016/j.bioorg.2020.103856

Design, synthesis, and evaluation of a novel benzamidine-based inhibitor of VEGF-C binding to Neuropilin-2

Bioorganic Chemistry

Docking of Nrp2 selective inhibitors

[DOI] 10.1038/s41589-020-0610-1

Structural dissimilarity from self drives neoepitope escape from immune tolerance

Nature Chemical Biology

The mutation in the HHATp8F neoepitope alters the surface presented to T cells without changing peptide–MHC binding