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Showing DEFA1 — DEF1 is a alias.

DEFA1

Neutrophil defensin 1 · UniProt P59665

Length
94 aa
Mass
10.2 kDa
Annotated
2026-06-09
100 papers in source corpus 9 papers cited in narrative 9 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DEFA1 encodes the cationic α-defensin HNP-1, a neutrophil-derived antimicrobial peptide whose cytotoxic activity is held latent during biosynthesis and unleashed upon maturation to act at the interface of antimicrobial defense and inflammasome-driven inflammation (PMID:8601627, PMID:23792296). The anionic propiece of proHNP-1 functions as an intramolecular inhibitor, blocking the mature peptide's binding to target cells and thereby suppressing both bactericidal killing and membrane permeabilization until proteolytic maturation removes it (PMID:8601627). The mature peptide directly inhibits adenovirus infection (PMID:11495691) and engages host immunity by binding the P2X7 receptor on LPS-primed macrophages, triggering K⁺ efflux and NLRP3 inflammasome-dependent caspase-1 activation that drives IL-1β release and pyroptosis (PMID:23792296); the same P2X7–NLRP3–caspase-1 axis operates in endothelial cells, where HNP-1 causes barrier dysfunction and, in DEFA1/DEFA3 high-copy-number transgenic mice, worsens lethal sepsis that is reversible by an antibody blocking the HNP-1–P2X7 interaction (PMID:30718392). HNP-1 also acts within the NOD2 pathway, being induced by MDP and required for NOD2-dependent NF-κB activation and antibacterial function in intestinal epithelium (PMID:19856414). Its activity is regulated post-translationally by ART1-catalyzed ADP-ribosylation of arginines 14 and 24 at the airway epithelial surface, which diminishes its biological activity (PMID:19897717), and its membrane-engaging structure—a β-sheet fold with a conformationally flexible inter-strand loop—has been resolved by solid-state NMR (PMID:20097206).

Mechanistic history

Synthesis pass · year-by-year structured walk · 8 steps
  1. 1996 High

    Established how the cytotoxic α-defensin is kept inactive during its own biosynthesis, answering why the producing neutrophil is not damaged by its own peptide.

    Evidence Baculovirus-expressed proHNP-1 with CNBr cleavage, bactericidal and membrane permeabilization assays against L. monocytogenes and K562 cells

    PMID:8601627

    Open questions at the time
    • Does not define the protease(s) that remove the propiece in vivo
    • Mechanism of propiece-mediated steric/charge inhibition at the structural level not resolved
  2. 2001 Medium

    Extended HNP-1 function beyond bacterial killing by demonstrating direct antiviral activity against a DNA virus.

    Evidence In vitro adenovirus type 5 infection of 293 cells with dose-response HNP-1 treatment

    PMID:11495691

    Open questions at the time
    • Molecular target on virus or host cell not identified
    • Single virus, single cell line, single lab
  3. 2004 Low

    Began to define HNP-1 as an immunomodulator rather than purely an antimicrobial, showing it shapes cytokine output and can suppress NK/T-cell effector function.

    Evidence Cytometric bead array of cytokines from primary mononuclear/polymorphonuclear cells, and flow cytometry/NK cytotoxicity assays with colorectal tissue immunohistochemistry

    PMID:15369771 PMID:27910811

    Open questions at the time
    • Single functional assay per endpoint with no receptor or pathway mechanism
    • Immunosuppression in tumor microenvironment inferred from correlative tissue staining
  4. 2010 High

    Defined the structural basis for membrane interaction, localizing conformational flexibility to the loop predicted to engage microbial phospholipids.

    Evidence Solid-state NMR of microcrystalline HNP-1 with torsion-angle and inter-residue distance constraints

    PMID:20097206

    Open questions at the time
    • Structure is microcrystalline, not membrane-bound
    • Direct functional consequence of loop flexibility on membrane permeabilization not tested
  5. 2010 Medium

    Placed HNP-1 inside the NOD2 innate-immune circuit, showing it is both induced by and required for NOD2-driven NF-κB activation and bacterial killing in epithelium.

    Evidence qRT-PCR/Western/ELISA, NF-κB luciferase reporter, HNP-1 siRNA knockdown, and Salmonella gentamicin protection assay in NOD2-expressing intestinal epithelial cells

    PMID:19856414

    Open questions at the time
    • Mechanism linking secreted HNP-1 back to intracellular NOD2 signaling unclear
    • Whether the effect is direct or via membrane/receptor intermediate not resolved
  6. 2010 High

    Identified the host receptor and signaling axis that converts HNP-1 from antimicrobial peptide into an alarmin, answering how it triggers sterile inflammation.

    Evidence GST pull-down and confocal imaging of HNP-1–P2X7 binding plus caspase-1 assays, K⁺ efflux blockade, NLRP3 knockdown, pore-formation and IL-1β readouts in LPS-primed THP-1 macrophages

    PMID:23792296

    Open questions at the time
    • Binding stoichiometry/affinity at P2X7 not quantified
    • Single cell model, no in vivo confirmation in this study
  7. 2009 High

    Revealed a post-translational off-switch, identifying ART1-mediated ADP-ribosylation at specific arginines as a mechanism that dampens HNP-1 activity at epithelial surfaces.

    Evidence In vitro ART1 ADP-ribosylation with mass-spec site mapping (Arg14, Arg24) and isolation of modified HNP-1 from asthma/IPF patient BALF

    PMID:19897717

    Open questions at the time
    • Quantitative impact on antiviral vs P2X7 vs antimicrobial functions not dissected
    • Physiological fraction of HNP-1 modified in vivo unquantified
  8. 2019 High

    Validated the P2X7–NLRP3 axis in vivo and tied it to disease severity, showing HNP-1 drives endothelial pyroptosis and copy-number-dependent sepsis lethality reversible by receptor blockade.

    Evidence DEFA1/DEFA3 transgenic mice in a cecal ligation and puncture sepsis model with anti-HNP-1 blocking monoclonal antibody, endothelial permeability and pyroptosis assays

    PMID:30718392

    Open questions at the time
    • Relative contribution of endothelial vs macrophage pyroptosis to lethality not separated
    • Therapeutic antibody not validated in human sepsis

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the competing roles of HNP-1—antimicrobial/antiviral defense versus P2X7-driven pathogenic inflammation—are balanced, and whether propiece maturation, ADP-ribosylation, and copy number jointly set this threshold, remains unresolved.
  • No unified model integrating propiece inhibition, ART1 modification, and P2X7 engagement
  • In vivo protease responsible for maturation not identified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008289 lipid binding 2 GO:0048018 receptor ligand activity 2 GO:0090729 toxin activity 2
Localization
GO:0005576 extracellular region 2
Pathway
R-HSA-168256 Immune System 3 R-HSA-5357801 Programmed Cell Death 2
Partners
ART1NOD2P2RX7

Evidence

Reading pass · 9 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1996 The anionic propiece of HNP-1 (proHNP-1(20-94)) acts as an intramolecular inhibitor of defensin cytotoxicity. The linked propiece (and to a lesser extent unlinked propiece) interferes with HNP-1 binding to target cells, blocking both bactericidal activity against Listeria monocytogenes and membrane permeabilization of K562 leukemia cells in a dose-dependent manner. Baculovirus expression of proHNP-1, cyanogen bromide cleavage to yield mature recombinant HNP-1, bactericidal assays, cell permeabilization assays, mass spectrometry, RP-HPLC, acid-urea PAGE, conformation-specific antibody reactivity The Journal of clinical investigation High 8601627
2001 HNP-1 (DEFA1 protein) inhibits adenoviral infection of 293 cells with >95% inhibition at 50 µg/ml and an IC50 of ~15 µg/ml, demonstrating direct antiviral activity against adenovirus type 5. In vitro adenoviral infection assay of 293 cells treated with HNP-1 peptide at varying concentrations Regulatory peptides Medium 11495691
2009 ART1 on airway epithelial cell surfaces catalyzes ADP-ribosylation of HNP-1 specifically on arginines 14 and 24, converting arginine at position 14 to ornithine via a nonenzymatic hydrolytic reaction of the ADP-ribosylarginine intermediate. This post-translational modification decreases HNP-1 biological activity. In vitro ART1-catalyzed ADP-ribosylation assay, mass spectrometry, amino acid analysis, isolation of modified HNP-1 from bronchoalveolar lavage fluid (BALF) of asthma and IPF patients Proceedings of the National Academy of Sciences of the United States of America High 19897717
2010 HNP-1 directly binds to the P2X7 receptor on LPS-primed macrophages (demonstrated by GST pull-down and confocal microscopy), activating the P2X7–K⁺ efflux–caspase-1 signaling pathway. This leads to NLRP3 inflammasome-dependent caspase-1 activation, promoting pyroptotic pore formation and IL-1β release. GST pull-down assay, confocal microscopy, caspase-1 activity assay, KCl-mediated K⁺ efflux inhibition, NLRP3 knockdown, ethidium bromide uptake (pore formation assay), ELISA for IL-1β, LPS-primed THP-1 macrophage model Innate immunity High 23792296
2010 MDP-NOD2 stimulation specifically induces HNP-1 (DEFA1 protein) secretion in intestinal epithelial cells expressing endogenous NOD2. HNP-1 is required for NOD2-dependent NF-κB activation after MDP stimulation, and its knockdown (siRNA) impairs NOD2 antibacterial function against Salmonella typhimurium. qRT-PCR, Western blot, ELISA, NF-κB luciferase reporter assay, siRNA knockdown of HNP-1, gentamicin protection assay (Salmonella killing), site-directed mutagenesis of NOD2 Inflammatory bowel diseases Medium 19856414
2010 The three-dimensional structure of HNP-1 in a microcrystalline state was determined by solid-state NMR (SSNMR), revealing close similarity to crystal structures of the HNP family except for the loop region between the first and second β-strands, which shows conformational flexibility that may regulate HNP-1 interaction with phospholipid membranes of microbial cells. Solid-state NMR (magic-angle spinning); 2D and 3D MAS experiments yielding 13C/15N chemical shifts (torsion angle constraints) and inter-residue distances; torsion angle measurements of loop residues Journal of molecular biology High 20097206
2019 HNP-1 (encoded by DEFA1/DEFA3) induces endothelial cell pyroptosis through P2X7 receptor-mediated canonical caspase-1 activation in a NLRP3 inflammasome-dependent manner, causing endothelial barrier dysfunction. A monoclonal antibody blocking HNP-1 interaction with P2X7 protected transgenic mice carrying high copy number of DEFA1/DEFA3 from lethal sepsis. DEFA1/DEFA3 transgenic mice with neutrophil-specific expression; cecal ligation and puncture sepsis model; monoclonal antibody blocking; endothelial permeability assays; pyroptosis assays; caspase-1 activation; NLRP3 inflammasome assessment Proceedings of the National Academy of Sciences of the United States of America High 30718392
2004 HNP-1 stimulation of human mononuclear cells induces secretion of IFN-γ, IL-10, and IL-6; stimulation of polymorphonuclear cells induces IL-6. HNP-1 modulates cytokine production in primary immune cell cultures. Cytometric bead array by flow cytometry measuring cytokine levels in supernatants from primary human mononuclear and polymorphonuclear cell cultures stimulated with HNP-1 European cytokine network Low 27910811
2004 HNP-1, -2, and -3 inhibit NK cell tumor-lysis activity by downregulating CD16-CD56 expression, and inhibit T cells by downregulating CD4 expression, suggesting immunosuppressive roles in the tumor microenvironment. Flow cytometry for CD4, CD16, CD56 expression; NK cell cytotoxicity assays; immunohistochemistry of paired colorectal cancer and adjacent normal tissue Biochemical and biophysical research communications Low 15369771

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Glutamate in schizophrenia: a focused review and meta-analysis of ¹H-MRS studies. Schizophrenia bulletin 359 21746807
2010 Fluorine (19F) MRS and MRI in biomedicine. NMR in biomedicine 351 20842758
2007 Absolute quantification of phosphorus metabolite concentrations in human muscle in vivo by 31P MRS: a quantitative review. NMR in biomedicine 252 17628042
2011 13C MRS studies of neuroenergetics and neurotransmitter cycling in humans. NMR in biomedicine 219 21882281
2012 Characterization of neurophysiological and behavioral changes, MRI brain volumetry and 1H MRS in zQ175 knock-in mouse model of Huntington's disease. PloS one 208 23284644
2002 A Rad26-Def1 complex coordinates repair and RNA pol II proteolysis in response to DNA damage. Nature 188 11859374
2001 Human alpha-defensin 1 (HNP-1) inhibits adenoviral infection in vitro. Regulatory peptides 132 11495691
2005 Upregulated expression of human neutrophil peptides 1, 2 and 3 (HNP 1-3) in colon cancer serum and tumours: a biomarker study. BMC cancer 127 15656915
1996 Intramolecular inhibition of human defensin HNP-1 by its propiece. The Journal of clinical investigation 111 8601627
2005 A review of the possible relevance of inositol and the phosphatidylinositol second messenger system (PI-cycle) to psychiatric disorders--focus on magnetic resonance spectroscopy (MRS) studies. Human psychopharmacology 107 15880397
1998 Quantitative proton-decoupled 31P MRS and 1H MRS in the evaluation of Huntington's and Parkinson's diseases. Neurology 104 9566391
2006 MRS shows abnormalities before symptoms in familial Alzheimer disease. Neurology 91 16534109
2001 [3H]MRS 1754, a selective antagonist radioligand for A(2B) adenosine receptors. Biochemical pharmacology 87 11266650
2009 Changes in MRS neuronal markers and T cell phenotypes observed during early HIV infection. Neurology 77 19398702
2013 Proteasome-mediated processing of Def1, a critical step in the cellular response to transcription stress. Cell 71 23993092
2019 Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis. Proceedings of the National Academy of Sciences of the United States of America 63 30718392
2015 MRI/MRS in neuroinflammation: methodology and applications. Clinical and translational imaging 63 26705534
2021 Prodromal neuroinflammatory, cholinergic and metabolite dysfunction detected by PET and MRS in the TgF344-AD transgenic rat model of AD: a collaborative multi-modal study. Theranostics 60 34093845
2005 Heterogeneity in 1H-MRS profiles of presymptomatic and early manifest Huntington's disease. Brain research 60 15621015
2017 Insights into brain microstructure from in vivo DW-MRS. NeuroImage 59 29155183
2018 GABA levels and measures of intracortical and interhemispheric excitability in healthy young and older adults: an MRS-TMS study. Neurobiology of aging 58 29494863
2022 MRSCloud: A cloud-based MRS tool for basis set simulation. Magnetic resonance in medicine 55 35775808
2015 (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. Journal of inherited metabolic disease 55 25860816
1997 Behavioral and neuroendocrine responses controlled by the concerted action of central mineralocorticoid (MRS) and glucocorticoid receptors (GRS). Psychoneuroendocrinology 55 9264153
2015 The use of dynamic nuclear polarization (13)C-pyruvate MRS in cancer. American journal of nuclear medicine and molecular imaging 51 26550544
1992 The contribution made by cell death and oxygenation to 31P MRS observations of tumour energy metabolism. NMR in biomedicine 51 1449969
2012 Correlation of a priori DCE-MRI and (1)H-MRS data with molecular markers in neck nodal metastases: Initial analysis. Oral oncology 50 22366441
1999 Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology 49 10227616
2007 Ha-DEF1, a sunflower defensin, induces cell death in Orobanche parasitic plants. Planta 48 17375322
2018 Integrated imaging of [11C]-PBR28 PET, MR diffusion and magnetic resonance spectroscopy 1H-MRS in amyotrophic lateral sclerosis. NeuroImage. Clinical 47 30112276
2017 Diabetic db/db mice do not develop heart failure upon pressure overload: a longitudinal in vivo PET, MRI, and MRS study on cardiac metabolic, structural, and functional adaptations. Cardiovascular research 47 28549111
2004 DNA damage-induced Def1-RNA polymerase II interaction and Def1 requirement for polymerase ubiquitylation in vitro. The Journal of biological chemistry 47 15166235
2003 The P2Y(1) receptor as a target for new antithrombotic drugs: a review of the P2Y(1) antagonist MRS-2179. Cardiovascular drug reviews 47 12595918
2021 Anterior cingulate cortex neurometabolites in bipolar disorder are influenced by mood state and medication: A meta-analysis of 1H-MRS studies. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 44 33581932
2019 In vivo 13 C and 1 H-[13 C] MRS studies of neuroenergetics and neurotransmitter cycling, applications to neurological and psychiatric disease and brain cancer. NMR in biomedicine 44 31478594
2009 ADP-ribosylation of human defensin HNP-1 results in the replacement of the modified arginine with the noncoded amino acid ornithine. Proceedings of the National Academy of Sciences of the United States of America 44 19897717
2012 (31) P and (1) H MRS of DB-1 melanoma xenografts: lonidamine selectively decreases tumor intracellular pH and energy status and sensitizes tumors to melphalan. NMR in biomedicine 43 22745015
2013 Alarmin HNP-1 promotes pyroptosis and IL-1β release through different roles of NLRP3 inflammasome via P2X7 in LPS-primed macrophages. Innate immunity 41 23792296
2009 Proton MRS of the breast in the clinical setting. NMR in biomedicine 41 19086012
2007 Response of choline metabolites to docetaxel therapy is quantified in vivo by localized (31)P MRS of human breast cancer xenografts and in vitro by high-resolution (31)P NMR spectroscopy of cell extracts. Magnetic resonance in medicine 41 17654590
1998 An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatric neurology 40 9588530
2016 Associations between Dietary Nutrient Intakes and Hepatic Lipid Contents in NAFLD Patients Quantified by ¹H-MRS and Dual-Echo MRI. Nutrients 39 27618908
2010 MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology. Neurology 38 20805522
2004 In vivo cardiac 1H-MRS in the mouse. Magnetic resonance in medicine 37 15508174
1988 Estimation of tumor oxygenation and metabolic rate using 31P MRS: correlation of longitudinal relaxation with tumor growth rate and DNA synthesis. International journal of radiation oncology, biology, physics 37 2968330
2019 Task-related measures of short-interval intracortical inhibition and GABA levels in healthy young and older adults: A multimodal TMS-MRS study. NeuroImage 36 31863914
2010 Resonance assignment and three-dimensional structure determination of a human alpha-defensin, HNP-1, by solid-state NMR. Journal of molecular biology 36 20097206
1999 DEF-1, a novel Src SH3 binding protein that promotes adipogenesis in fibroblastic cell lines. Molecular and cellular biology 35 10022919
1999 1H-MRS lipid signal modulation and morphological and ultrastructural changes related to tumor cell proliferation. Magnetic resonance in medicine 33 10440949
2014 Def1 promotes the degradation of Pol3 for polymerase exchange to occur during DNA-damage--induced mutagenesis in Saccharomyces cerevisiae. PLoS biology 32 24465179
2022 Selenium-Enriched Pediococcus acidilactici MRS-7 Alleviates Patulin-Induced Jejunum Injuries in Mice and Its Possible Mechanisms. Journal of agricultural and food chemistry 31 35394776
2007 Quantitative correlation between (1)H MRS and dynamic contrast-enhanced MRI of human breast cancer. Magnetic resonance imaging 31 18060716
2019 Identification of IDH and TERTp mutation status using 1 H-MRS in 112 hemispheric diffuse gliomas. Journal of magnetic resonance imaging : JMRI 30 31664773
2016 The recovery trajectory of adolescent social defeat stress-induced behavioral, (1)H-MRS metabolites and myelin changes in Balb/c mice. Scientific reports 30 27283029
2010 MDP-NOD2 stimulation induces HNP-1 secretion, which contributes to NOD2 antibacterial function. Inflammatory bowel diseases 28 19856414
2017 PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible synergistic inflammatory biomarkers for coronary heart disease. Lipids in health and disease 27 28420383
2021 Diffusion-weighted MR spectroscopy (DW-MRS) is sensitive to LPS-induced changes in human glial morphometry: A preliminary study. Brain, behavior, and immunity 26 34673176
2013 Proton magnetic resonance spectroscopy ((1)H-MRS) reveals geniculocalcarine and striate area degeneration in primary glaucoma. PloS one 26 24009739
2010 Quantitative (1)H MRI, (19)F MRI, and (19)F MRS of cell-internalized perfluorocarbon paramagnetic nanoparticles. Contrast media & molecular imaging 26 20648660
2010 Trypanosoma cruzi infection modulates the expression of Triatoma brasiliensis def1 in the midgut. Vector borne and zoonotic diseases (Larchmont, N.Y.) 26 20925526
2017 Applications of high-resolution magic angle spinning MRS in biomedical studies I-cell line and animal models. NMR in biomedicine 25 28301071
2016 (13)C MRS and LC-MS Flux Analysis of Tumor Intermediary Metabolism. Frontiers in oncology 25 27379200
2021 Kynurenines increase MRS metabolites in basal ganglia and decrease resting-state connectivity in frontostriatal reward circuitry in depression. Translational psychiatry 23 34482366
2019 GABA levels and TSPO expression in people at clinical high risk for psychosis and healthy volunteers: a PET-MRS study. Journal of psychiatry & neuroscience : JPN 23 30255837
2013 Clinical protocols for ³¹P MRS of the brain and their use in evaluating optic pathway gliomas in children. European journal of radiology 23 24331847
1997 Differentiation between cortical atrophy and hydrocephalus using 1H MRS. Magnetic resonance in medicine 23 9055230
1999 Short TE proton MRS and neurofibromatosis type 1 intracranial lesions. Journal of computer assisted tomography 22 10589584
2002 Bifidobacterium longum ATCC 15707 cell production during free- and immobilized-cell cultures in MRS-whey permeate medium. Applied microbiology and biotechnology 21 12382059
2018 Involvement of the def-1 Mutation in the Response of Tomato Plants to Arbuscular Mycorrhizal Symbiosis Under Well-Watered and Drought Conditions. Plant & cell physiology 19 29165704
2018 Multifaceted assessment of the APP/PS1 mouse model for Alzheimer's disease: Applying MRS, DTI, and ASL. Brain research 19 30077647
2017 Hyperpolarized 13C Diffusion MRS of Co-Polarized Pyruvate and Fumarate to Measure Lactate Export and Necrosis. Journal of Cancer 19 28928899
2016 MRS studies of neuroenergetics and glutamate/glutamine exchange in rats: Extensions to hyperammonemic models. Analytical biochemistry 19 28017739
2012 Lipid biomarkers of glioma cell growth arrest and cell death detected by 1 H magic angle spinning MRS. NMR in biomedicine 19 22407940
2007 In vivo monitoring response to chemotherapy of human diffuse large B-cell lymphoma xenografts in SCID mice by 1H and 31P MRS. Academic radiology 19 18035282
2006 MRS as endogenous molecular imaging for brain and prostate tumors: FP6 project "eTUMOR". Advances in experimental medicine and biology 19 17163172
1996 Introduction to in vivo MRS of cancer: new perspectives and open problems. Anticancer research 19 8694519
2022 UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase II and are the human orthologues of yeast Def1. DNA repair 18 35633597
2019 1H MRS spectroscopy in preclinical autosomal dominant Alzheimer disease. Brain imaging and behavior 17 29907927
2012 (1)H-MRS evaluation of therapeutic effect of neural stem cell transplantation on Alzheimer's disease in AβPP/PS1 double transgenic mice. Journal of Alzheimer's disease : JAD 17 21955813
2013 Morphological and metabolic changes in the nigro-striatal pathway of synthetic proteasome inhibitor (PSI)-treated rats: a MRI and MRS study. PloS one 16 23431380
2013 Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism. PloS one 16 23977274
2021 Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. Annals of clinical and translational neurology 15 33951347
2016 The intergenic region of the maize defensin-like protein genes Def1 and Def2 functions as an embryo-specific asymmetric bidirectional promoter. Journal of experimental botany 15 27279278
2015 MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. Brain & development 15 26515723
2005 Parkinson's disease, chronic hydrocarbon exposure and striatal neuronal damage: a 1-H MRS study. Neurotoxicology 15 16246421
2018 In vivo characterization of brain metabolism by 1 H MRS, 13 C MRS and 18 FDG PET reveals significant glucose oxidation of invasively growing glioma cells. International journal of cancer 14 29417580
2017 Def1 interacts with TFIIH and modulates RNA polymerase II transcription. Proceedings of the National Academy of Sciences of the United States of America 14 29180430
2010 The putative role of human peritoneal adipocytes in the fight against bacteria: synthesis of the antimicrobial active peptide DEFA1-3. Nephron. Experimental nephrology 13 20424487
2007 Neurological and brain MRS findings in patients with Gaucher disease type 1. Molecular genetics and metabolism 13 17560820
2004 201Tl-SPECT and 1H-MRS study of benign lateral ventricle tumors: differential diagnosis of subependymoma. Neurosurgical review 13 15580370
2025 CEST imaging combined with 1H-MRS reveal the neuroprotective effects of riluzole by improving neurotransmitter imbalances in Alzheimer's disease mice. Alzheimer's research & therapy 12 39806490
2020 In vivo MRS measurement of 2-hydroxyglutarate in patient-derived IDH-mutant xenograft mouse models versus glioma patients. Magnetic resonance in medicine 12 32003035
2016 Proton MRS imaging in pediatric brain tumors. Pediatric radiology 12 27233788
2016 LL-37, HNP-1, and HBD2/3 modulate the secretion of cytokines TNF-α, IL-6, IFN-γ, IL-10 and MMP1 in human primary cell cultures. European cytokine network 12 27910811
2001 Studies of metabolic compartmentation and glucose transport using in vivo MRS. NMR in biomedicine 12 11320540
2023 Endothelial MRs Mediate Western Diet-Induced Lipid Disorders and Skeletal Muscle Insulin Resistance in Females. Endocrinology 11 37289042
2021 A novel roadmap connecting the 1H-MRS total choline resonance to all hallmarks of cancer following targeted therapy. European radiology experimental 11 33447887
2020 Association between cannabinoid 1 receptor availability and glutamate levels in healthy controls and drug-free patients with first episode psychosis: a multi-modal PET and 1H-MRS study. European archives of psychiatry and clinical neuroscience 11 32986150
2016 In vivo N-15 MRS study of glutamate metabolism in the rat brain. Analytical biochemistry 11 27580850
2004 Regulation of activities of NK cells and CD4 expression in T cells by human HNP-1, -2, and -3. Biochemical and biophysical research communications 11 15369771

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