CREB Is Activated by the SCF/KIT Axis in a Partially ERK-Dependent Manner and Orchestrates Survival and the Induction of Immediate Early Genes in Human Skin Mast Cells.
Franke K, Bal G, Li Z, Zuberbier T, Babina M
This study shows that CREB drives the expression of NR4A2 in human skin mast cells, but it does not investigate NR4A2's role in dopaminergic neurons or motor function. The research focuses on allergic skin responses and cell survival pathways unrelated to the neurological mechanisms underlying NR4A2-related syndromes.
- CREB activates NR4A2 expression in human skin mast cells via the SCF/KIT pathway.
- The study examines allergic dermatoses, not neurological development or Parkinson's disease.
- NR4A2 appears as an incidental marker of immune cell activation in this context.
FOXG1 drives transcriptomic networks to specify principal neuron subtypes during the development of the medial pallium.
Ba R, Yang L, Zhang B, Jiang P, Ding Z, Zhou X, Yang Z, Zhao C
This study identifies Nr4a2 as a gene directly activated by FOXG1 to help specify a specific type of brain cell in the mouse hippocampus. It does not provide evidence on NR4A2-related syndrome in humans or potential treatments for affected children.
- FOXG1 activates Nr4a2 to promote identity in subiculum pyramidal neurons in mice.
- The research uses postmitotic deletion of FOXG1 in mouse embryos.
- No human data, clinical cohorts, or therapeutic interventions are reported.
- Findings focus on basic developmental biology rather than disease mechanisms.
Mechanistic insights into the role of vitamin D and computational identification of potential lead compounds for Parkinson's disease.
John Marshal J, Kuriakose BB, Alhazmi AH, Muthusamy K
Computational modeling identifies three small molecules that bind to and activate the NURR1 protein, which is relevant to NR4A2-related syndromes. These compounds show strong predicted stability and binding energy in silico. Further experimental validation is required to confirm their potency.
- Three potential NURR1 agonists are identified via computational screening.
- Compounds exhibit high predicted binding affinity and stability.
- Study relies entirely on in silico modeling without wet-lab validation.
- No human or animal data is presented for these specific compounds.
Prolonged Differentiation of Neuron-Astrocyte Co-Cultures Results in Emergence of Dopaminergic Neurons.
de Leeuw VC, van Oostrom CTM, Zwart EP, Heusinkveld HJ, Hessel EVS
This study establishes a laboratory method for growing human dopaminergic neurons from stem cells to test chemical safety. It does not provide new information about NR4A2-related syndrome or potential treatments for the child.
- Researchers grew human neural progenitor cells with astrocytes for 70 days.
- The culture developed stable dopaminergic neurons expressing key markers like TH and NURR1.
- The model aims to assess developmental neurotoxicity of chemicals on dopamine systems.
- No clinical data or NR4A2-specific findings are included in this work.
Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.
Caritativo ECA, Yu JRT, Bautista JMP, Nishioka K, Jamora RDG, Yalung PM, Ng AR, Hattori N
This study screens for Parkinson's disease genes in Filipino families and identifies mutations in PINK1 and PRKN, but it does not report any findings related to NR4A2 variants. The research focuses on common early-onset Parkinson's genetics rather than the specific syndrome affecting your child. It provides no direct clinical insights or treatment implications for NR4A2-related conditions.
- The study screened 18 patients from 11 families for 23 Parkinson's-related genes.
- Researchers found PINK1 and PRKN mutations, but no NR4A2 variants were reported.
- Findings confirm PINK1 as a common cause of early-onset Parkinson's in this population.
- The paper offers no data on NR4A2 function or therapy for your child.
Single-nucleus RNA and ATAC sequencing uncovers the molecular and cellular characteristics in the musk gland of Chinese forest musk deer (Moschus berezovskii).
Liu C, Hong T, Yu L, Chen Y, Wang S, Ren Z
This study maps the cellular makeup and gene regulation networks of a musk deer's scent gland using single-nucleus sequencing. It identifies NR4A2 as one of several transcription factors regulating genes in specific acinar cells involved in secretion. The research provides no clinical data or therapeutic insights for human neurodevelopmental conditions.
- Researchers analyzed musk gland cells from Chinese forest musk deer using snRNA-seq and snATAC-seq.
- The study identified 13 distinct cell types, including two subtypes of acinar cells.
- NR4A2 appears as a core transcription factor regulating target genes in one acinar cell cluster.
- The findings focus on musk secretion mechanisms in an endangered animal species.
- No human subjects, clinical outcomes, or treatment implications are reported.
IGF2-NR4A2 Signaling Regulates Macrophage Subtypes to Attenuate Liver Cirrhosis.
Yao L, Hu X, Yuan M, Zhang Q, Liu P, Yang L, Dai K, Jiang Y
This study investigates a mechanism for treating liver cirrhosis in mice, finding that IGF2 enhances macrophage therapy by upregulating NR4A2 to reduce inflammation and fibrosis. The research focuses entirely on liver disease pathology and does not address the neurological or developmental aspects of NR4A2-related syndromes.
- The study uses mouse models of liver cirrhosis, not human patients.
- IGF2 boosts macrophage therapy by upregulating NR4A2 to lower inflammation.
- Findings apply to liver fibrosis and do not inform neurodevelopmental care.
- NR4A2 is studied as a molecular target in hepatic cells, not neurons.
Exposure to dipentyl phthalate in utero disrupts the adrenal cortex function of adult male rats by inhibiting SIRT1/PGC-1α and inducing AMPK phosphorylation.
Chen H, Liu M, Li Q, Zhou P, Huang J, Zhu Q, Li Z, Ge RS
In utero exposure to the plasticizer DPeP harms adrenal gland function in adult male rats by disrupting key hormone pathways, reducing stress and salt-regulating hormones, and increasing cellular stress and cell death. The damage involves altered signaling through SIRT1 and AMPK, which are also relevant to human neurodevelopmental conditions.
- DPeP exposure in rats reduces adrenal hormones in adult males
- Zona glomerulosa, which controls salt balance, becomes thinner
- DPeP disrupts genes linked to adrenal function and cell survival
- It increases oxidative stress and cell death in adrenal cells
- SIRT1 and AMPK pathways are impaired, affecting cellular energy and health
Identification and Validation of Hub Genes in the Stenosis of Arteriovenous Fistula.
Li Y, Chen Y, Cui W, Wang J, Chen X, Zhang C, Zhu L, Bian C, Luo T
NR4A2 is overexpressed in narrowed arteriovenous fistulas, suggesting it plays a role in the condition's development and could be a target for future treatments.
- NR4A2 is upregulated in stenotic fistulas
- High NR4A2 levels found in both human and rat tissue
- NR4A2 may contribute to fistula narrowing
- Potential target for new therapies
- Results validated with lab tests
Systems level analysis of sex-dependent gene expression changes in Parkinson's disease.
Tranchevent LC, Halder R, Glaab E
This study identifies sex-specific differences in gene expression patterns in Parkinson's disease, highlighting NR4A2 as a potential therapeutic target for specific molecular pathways. The findings are based on computational analysis of existing brain transcriptomics data rather than direct clinical trials or human genetic studies of NR4A2 variants.
- The research analyzes bulk and single-cell brain data from Parkinson's disease patients.
- It identifies sex-dependent differences in mitochondrial pathways and gene regulation.
- NR4A2 is noted as a regulatory factor with known neuroprotective roles in animal models.
- The study does not test treatments or analyze NR4A2 mutations in humans.
Efficient Generation of Dopaminergic Neurons from Mouse Ventral Midbrain Astrocytes.
Han JY, Lee EH, Kim SM, Park CH
Researchers successfully convert mouse midbrain astrocytes into dopaminergic neurons and progenitor cells using specific transcription factors. This method produces cells with enhanced viability that retain key characteristics of dopaminergic neurons upon differentiation.
- The study uses mouse ventral midbrain astrocytes, not human cells or patient data.
- Astrocytes are reprogrammed into dopaminergic neurons using Ascl1 and Nurr1 factors.
- Generated progenitor cells show improved viability compared to previous methods.
- Differentiated cells exhibit key characteristics of dopaminergic neurons in vitro.
- The work suggests a potential cell therapy strategy for neurodegenerative diseases.
Differential expression of nuclear hormone receptors by dendritic cell subsets in human vaginal mucosa and skin.
Joo H, Gu C, Wiest M, Duluc D, Fernandez E, Nyarige V, Yi J, Oh S
This study found that different immune cells in the human vaginal lining have unique patterns of nuclear hormone receptor expression, with some receptors like NURR1 being more active in skin than in the vagina. These receptors may influence local immune responses and could be relevant to understanding immune-related conditions in the reproductive tract.
- NURR1 is more active in skin than in vaginal immune cells
- Vaginal immune cells express different hormone receptors than skin cells
- Estrogen and progesterone receptors are mainly in non-immune cells in the vagina
- Receptor patterns vary by tissue and cell type
- These findings may help explain immune differences in reproductive tissues
Ganglioside Microdomains on Cellular and Intracellular Membranes Regulate Neuronal Cell Fate Determination.
Itokazu Y, Yu RK
This review describes how gangliosides regulate neuronal development and gene expression, including the recruitment of NR4A2 to dopamine-related genes. It does not provide clinical evidence or direct treatment insights for NR4A2-related syndromes.
- Gangliosides modulate neural stem cell fate through membrane microdomains.
- GM1 ganglioside recruits NR4A2 to the tyrosine hydroxylase gene promoter.
- This recruitment helps regulate dopaminergic neuron-specific gene expression.
- The paper is a mechanistic review without human clinical data.
Identification of Oxidative Stress-Related Biomarkers in Diabetic Kidney Disease.
Ma X, Zhang X, Leng T, Ma J, Yuan Z, Gu Y, Hu T, Liu Q, Shen T
This study found that five genes, including NR4A2, are significantly downregulated in diabetic kidney disease and could serve as potential diagnostic markers and therapeutic targets. The genes are linked to oxidative stress, a key factor in kidney damage.
- NR4A2 is downregulated in diabetic kidney disease
- Five hub genes show strong diagnostic potential
- Oxidative stress is a key mechanism in disease progression
- These genes may be targets for future treatments
- Findings are based on human gene expression data
The lncRNA LUCAT1 is elevated in inflammatory disease and restrains inflammation by regulating the splicing and stability of NR4A2.
Vierbuchen T, Agarwal S, Johnson JL, Galia L, Lei X, Stein K, Olagnier D, Gaede KI, Herzmann C, Holm CK, Heine H, Pai A, O'Hara Hall A, Hoebe K, Fitzgerald KA
This study identifies a molecular mechanism where the long non-coding RNA LUCAT1 regulates the stability and splicing of NR4A2 to control inflammation in immune cells. Researchers found that LUCAT1 levels are elevated in patients with inflammatory bowel disease, asthma, and COPD, correlating with disease severity.
- LUCAT1 regulates NR4A2 splicing and stability in human myeloid immune cells.
- Reduced NR4A2 leads to increased expression of inflammatory immune genes.
- LUCAT1 levels are elevated in patients with IBD, asthma, and COPD.
- Higher LUCAT1 correlates with greater severity in these inflammatory diseases.
NR4A2 may be a potential diagnostic biomarker for myocardial infarction: A comprehensive bioinformatics analysis and experimental validation.
Wei D, Qi J, Wang Y, Li L, Yang G, He X, Zhang Z
NR4A2 is strongly linked to heart attacks and may help diagnose them early, according to a study that found it highly accurate in identifying heart attack patients using genetic data and lab tests.
- NR4A2 levels rise significantly in heart attack patients
- NR4A2 shows high accuracy as a potential diagnostic marker
- The gene is active in blood vessel cells after a heart attack
- Lab tests confirmed NR4A2's role in heart attack tissue
- 191 drugs may target pathways related to NR4A2 in heart attacks
Advances in NURR1-Regulated Neuroinflammation Associated with Parkinson's Disease.
Al-Nusaif M, Lin Y, Li T, Cheng C, Le W
This narrative review explains how the protein NURR1 helps protect dopamine-producing neurons by suppressing harmful inflammation in the brain. It suggests that drugs activating NURR1 could potentially slow Parkinson's disease progression by reducing this inflammatory damage.
- NURR1 protects dopamine neurons by stopping inflammatory genes in brain support cells.
- The paper reviews how neuroinflammation drives Parkinson's disease progression.
- Animal studies show NURR1 activators reverse behavioral and physical symptoms.
- Targeting NURR1 is proposed as a strategy to treat chronic inflammation.
Enhancing Neurological Competence of Nanoencapsulated Cordyceps/Turmeric Extracts in Human Neuroblastoma SH-SY5Y Cells.
Kaokaen P, Sorraksa N, Phonchai R, Chaicharoenaudomrung N, Kunhorm P, Noisa P
Nanoencapsulated extracts of Cordyceps and Turmeric improve dopamine production and neuronal maturation in human neuroblastoma cells. These treatments also reduce markers associated with Alzheimer's disease and increase cellular cleanup processes.
- Study uses SH-SY5Y human neuroblastoma cells, not live animals or patients.
- Nanoencapsulation significantly increases cellular uptake of the herbal extracts.
- Treatment boosts expression of dopaminergic genes including NURR1 and dopamine secretion.
- Results show reduced Alzheimer-related gene expression and increased autophagy activity.
Nuclear Receptor Subfamily 4A Signaling as a Key Disease Pathway of CD1c+ Dendritic Cell Dysregulation in Systemic Sclerosis.
Servaas NH, Hiddingh S, Chouri E, Wichers CGK, Affandi AJ, Ottria A, Bekker CPJ, Cossu M, Silva-Cardoso SC, van der Kroef M, Hinrichs AC, Carvalheiro T, Vazirpanah N, Beretta L, Rossato M, Bonte-Mineur F, Radstake TRDJ, Kuiper JJW, Boes M, Pandit A
The NR4A family of genes, including NR4A2, plays a key role in regulating immune dysfunction and fibrosis in a type of immune cell involved in systemic sclerosis. Restoring NR4A activity may help normalize these immune cells and reduce disease severity.
- NR4A2 is a key regulator of immune cell dysfunction in systemic sclerosis
- NR4A genes are underactive in immune cells of SSc patients
- Activating NR4A genes reduces harmful immune responses in lab tests
- NR4A pathway could be a new target for treating systemic sclerosis
- This finding may lead to therapies that restore immune balance
Excess BAFF Alters NR4As Expression Levels and Breg Function of Human Precursor-like Marginal Zone B-Cells in the Context of HIV-1 Infection.
Doyon-Laliberté K, Aranguren M, Byrns M, Chagnon-Choquet J, Paniconi M, Routy JP, Tremblay C, Quintal MC, Brassard N, Kaufmann DE, Poudrier J, Roger M
Excess B-cell activating factor (BAFF) in HIV infection reduces the regulatory function of a specific type of B-cell (MZp B-cells) by lowering levels of NR4A2 and other key proteins involved in controlling inflammation. This impairment persists even with antiretroviral therapy and may contribute to ongoing immune problems in people with HIV.
- Excess BAFF reduces NR4A2 and Breg function in human B-cells
- NR4A2 and regulatory proteins are lower in HIV progressors
- Breg dysfunction is not fixed by antiretroviral therapy
- BAFF exposure harms Breg function in healthy cells too
- NR4A2 is linked to immune regulation and inflammation control
Integrative analysis reveals structural basis for transcription activation of Nurr1 and Nurr1-RXRα heterodimer.
Zhao M, Wang N, Guo Y, Li J, Yin Y, Dong Y, Zhu J, Peng C, Xu T, Liu J
This study maps the physical structure of the Nurr1 protein to explain how it binds to DNA and activates genes. It shows that Nurr1 changes shape to function and identifies potential molecular targets for future drug development.
- Researchers determined the crystal structure of Nurr1 bound to DNA.
- Nurr1 exhibits conformational flexibility when acting as a monomer.
- The study models how Nurr1 pairs with RXRα to regulate transcription.
- DNA sequence and RXRα agonists modulate Nurr1's activity.
- Findings provide a structural basis for designing future therapeutics.
Integrative analyses of potential biomarkers and pathways for non-obstructive azoospermia.
Zhong Y, Chen X, Zhao J, Deng H, Li X, Xie Z, Zhou B, Xian Z, Li X, Luo G, Li H
This study used bioinformatics to analyze gene changes in non-obstructive azoospermia (NOA) and found that NR4A2 is a key gene linked to immune activity in the testes. The results suggest that immune cell changes may disrupt sperm production, offering new clues for diagnosing and treating NOA.
- NR4A2 is a top hub gene in NOA-related gene networks
- Immune cells like CD8+ T cells and plasma cells are linked to NR4A2 expression
- Changes in immune infiltration may affect sperm development
- Findings point to potential biomarkers for NOA diagnosis
- Results highlight immune system involvement in male infertility
Moxonidine ameliorates cardiac injury in rats with metabolic syndrome by regulating autophagy.
El-Sayed SS, Rezq S, Alsemeh AE, Mahmoud MF
This study shows that moxonidine protects rat hearts from metabolic syndrome damage by activating the NR4A2 pathway to improve cellular cleanup processes. The findings are limited to animal models of cardiovascular disease and do not address neurodevelopmental outcomes or motor symptoms relevant to NR4A2 syndrome.
- Moxonidine reduces heart damage in rats with metabolic syndrome.
- The drug works by activating the NR4A2 signaling pathway.
- NR4A2 activation improves cellular autophagy and reduces cell death.
- The study focuses on cardiac health, not brain development.
- Results are from rat models, not human clinical trials.
Mechano-growth factor E-domain modulates cardiac contractile function through 14-3-3 protein interactomes.
Solís C, Thompson WC, Peña JR, McDermott-Roe C, Langa P, Warren CM, Chrzanowska M, Wolska BM, Solaro RJ, Pieter Detombe, Goldspink PH
The study identifies that a specific part of the MGF protein, involved in heart function, influences how key proteins interact to control heart contractions. It shows that phosphorylation of a single amino acid (Ser18) in MGF's E-domain changes how it binds to 14-3-3γ, a protein that regulates heart muscle activity. This interaction affects genes like NR4A2, which is linked to neurological development and may play a role in heart function.
- MGF's E-domain regulates heart contractility via 14-3-3γ protein interactions
- Phosphorylation of Ser18 stabilizes 14-3-3γ and alters its binding to key heart proteins
- NR4A2 gene expression is influenced by MGF E-domain peptides
- The MGF-14-3-3γ interaction affects proteins involved in heart muscle contraction
- Ser18 phosphorylation state determines functional outcomes in cardiac cells
Molecular mechanisms underlying hypertensive effect of fructose and the preventive properties of inulin - Global transcriptomic analysis in rat aorta.
Ruskovska T, Konic-Ristic A, Mazur A, Milenkovic D
Fructose alters the activity of over 1,700 genes in the aorta, affecting blood vessel function and contributing to high blood pressure. Inulin can reverse many of these harmful changes, suggesting it may help prevent fructose-related hypertension.
- Fructose disrupts gene activity in blood vessels linked to high blood pressure
- Inulin reverses many of these gene changes
- NR4A2 is among key genes affected by fructose and inulin
- These findings explain how inulin may protect against hypertension
- Changes in gene expression are linked to cardiovascular and metabolic disease
YM750, an ACAT Inhibitor, Acts on Adrenocortical Cells to Inhibit Aldosterone Secretion Due to Depolarization.
Shimada H, Hata S, Yamazaki Y, Otsubo Y, Sato I, Ise K, Yokoyama A, Suzuki T, Sasano H, Sugawara A, Nakamura Y
YM750, an ACAT inhibitor, reduces aldosterone production in adrenal cells by blocking the gene expression of CYP11B2, which is triggered by cell depolarization. This effect occurs without affecting calcium levels, suggesting a specific pathway disruption in the adrenal cortex.
- YM750 blocks aldosterone production by suppressing CYP11B2 gene expression
- It works specifically on depolarization-induced aldosterone secretion
- ACAT1 is highly present in adrenal cells that produce aldosterone
- YM750 may be a potential treatment for primary aldosteronism
- The drug acts on intracellular signaling, not calcium influx
Functional Interaction Between α-Synuclein and Nurr1 in Dopaminergic Neurons.
Argyrofthalmidou M, Polissidis A, Karaliota S, Papapanagiotou I, Sotiriou E, Manousaki M, Papadopoulou-Daifoti Z, Spillantini MG, Stefanis L, Vassilatis DK
This mouse study shows that combining high alpha-synuclein with low Nurr1 disrupts dopamine signaling and causes behavioral changes, but it does not produce the full Parkinson's disease pathology seen in other models. The findings highlight a specific molecular interaction between these two proteins that affects dopamine transport and energy expenditure in young adult mice. This work provides mechanistic insight into how NR4A2 levels might influence dopaminergic function but offers no direct clinical guidance for human patients.
- Mice with high alpha-synuclein and low Nurr1 show impaired dopamine signaling without full Parkinson's symptoms.
- The combination causes increased energy use, reduced striatal dopamine, and prolonged hyperactivity in young adults.
- Alpha-synuclein and Nurr1 levels critically regulate dopamine transporter function in the nigrostriatal system.
- This is a preclinical mouse model study with no human clinical data or treatment trials.
The Influence of Prenatal Exposure to Quetiapine Fumarate on the Development of Dopaminergic Neurons in the Ventral Midbrain of Mouse Embryos.
Alsanie WF, Abdelrahman S, Alhomrani M, Gaber A, Alosimi EA, Habeeballah H, Alkhatabi HA, Felimban RI, Hauser CAE, Tayeb HH, Alamri AS, Alamri A, Raafat BM, Alswat KA, Althobaiti YS, Asiri YA
Prenatal exposure to the antipsychotic quetiapine disrupts the development of dopaminergic neurons in mouse embryos by altering the expression of key genes, including Nurr1 (NR4A2). This study suggests that quetiapine may interfere with normal brain formation during pregnancy.
- Quetiapine exposure reduces expression of critical dopaminergic genes in developing mouse brains.
- Nurr1 (NR4A2) expression is significantly upregulated by quetiapine in this model.
- The drug hinders the structural development of ventral midbrain neurons.
- Findings apply to prenatal exposure, not treatment of existing NR4A2 syndrome.
BDNF-modified human umbilical cord mesenchymal stem cells-derived dopaminergic-like neurons improve rotation behavior of Parkinson's disease rats through neuroprotection and anti-neuroinflammation.
Jiang Z, Wang J, Sun G, Feng M
Transplanting stem cells modified to produce BDNF into rats with Parkinson's disease improves motor symptoms and protects dopamine-producing neurons. This approach works by reducing brain inflammation and supporting cell survival through specific molecular signaling pathways.
- BDNF-modified stem cells improve movement in Parkinson's rats.
- Treatment increases dopamine levels in the striatum.
- Neuroprotection occurs via the BDNF-TrkB-PI3K/Akt pathway.
- Anti-inflammatory effects involve Hsp60-TLR4/MyD88 signaling.
- Study uses rat models, not human patients.
Construction of an immune-related signature for predicting the ischemic events in patients undergoing carotid endarterectomy.
Li S, Zhang Q, Weng L, Li J
This study identifies NR4A2 as one of seven immune-related genes that help predict stroke risk in patients undergoing carotid artery surgery for atherosclerosis. The research focuses on using gene expression patterns to stratify patient prognosis rather than investigating the genetic cause of NR4A2-related syndromes.
- NR4A2 is part of a seven-gene model predicting ischemic events in carotid surgery patients.
- The study analyzes immune responses in atherosclerotic plaques, not NR4A2 syndrome pathophysiology.
- High NR4A2 expression correlates with specific immune infiltration patterns in plaque tissue.
- This is a computational analysis of existing public datasets, not a clinical trial or new discovery.
Newly regenerated dopaminergic neurons in 6-OHDA-lesioned adult zebrafish brain proliferate in the Olfactory bulb and telencephalon, but migrate to, differentiate and mature in the diencephalon.
Vijayanathan Y, Hamzah NM, Lim SM, Lim FT, Tan MP, Majeed ABA, Ramasamy K
This study maps the timeline of dopamine neuron regeneration in zebrafish after brain damage, showing that new cells proliferate in the olfactory bulb and telencephalon before migrating to the diencephalon to mature. It identifies a transient drop in Nurr1 (nr4a2a) gene expression during the early stages of this repair process.
- New dopamine neurons regenerate in zebrafish after chemical brain damage.
- Cell proliferation peaks in the olfactory bulb and telencephalon at day seven.
- Cells migrate to the diencephalon where they mature into dopamine neurons by day thirty.
- Nurr1 gene expression drops temporarily during the first two weeks of regeneration.
Transcriptomic networks of gba3 governing specification of the dopaminergic neurons in zebrafish embryos.
Kumar A, Rhee M
This study identifies a zebrafish pseudogene, gba3, as essential for the development of dopaminergic neurons in embryos. Knocking down gba3 reduces key markers like Nurr1 and Th, while restoring gba3 rescues these deficits.
- gba3 is strictly expressed during dopaminergic neurogenesis in zebrafish embryos.
- Reducing gba3 lowers levels of Nurr1, Lmx1a, and Th transcripts.
- Restoring gba3 expression rescues the developmental deficits caused by its absence.
- The study uses zebrafish models to map transcriptional networks in neurogenesis.
Oxidative-Damaged Mitochondria Activate GABARAPL1-Induced NLRP3 Inflammasomes in an Autophagic-Exosome Manner after Acute Myocardial Ischemia.
Zhang T, Hou D, He J, Zeng X, Liu R, Liu L, Li T, Xiao Y, Ma R, Huang H, Duan C
GABARAPL1 (GEC1) is a mitochondrial biomarker in circulating endothelial cells that rises after acute heart attack and drives inflammation by activating the NLRP3 inflammasome through damaged mitochondria and blocked autophagy. This process leads to increased immune cells and vascular inflammation, making GEC1 a promising diagnostic marker for heart attacks.
- GEC1 is a key biomarker for acute heart attacks
- Damaged mitochondria trigger GEC1-related inflammation
- Blocked autophagy leads to exosome release of inflammatory signals
- High GEC1 links to more immune cells in blood
- GEC1 in blood cells may help diagnose heart attacks
Parkinson's disease-associated, sex-specific changes in DNA methylation at PARK7 (DJ-1), SLC17A6 (VGLUT2), PTPRN2 (IA-2β), and NR4A2 (NURR1) in cortical neurons.
Kochmanski J, Kuhn NC, Bernstein AI
This study identifies sex-specific DNA methylation changes in the NR4A2 gene within cortical neurons of individuals with Parkinson's disease. It highlights that epigenetic regulation of NR4A2 differs between males and females in the context of neurodegeneration.
- The study analyzes DNA methylation in postmortem parietal cortex neurons from Parkinson's patients.
- It reports sex-specific methylation changes at the NR4A2 (NURR1) locus in Parkinson's disease.
- The research focuses on epigenetic mechanisms rather than clinical outcomes or treatments for NR4A2 syndrome.
- Findings relate to neurodegeneration in adults, not the developmental impacts seen in pediatric NR4A2 cases.
Expression profiling suggests the involvement of hormone-related, metabolic, and Wnt signaling pathways in pterygium progression.
Li J, Tao T, Yu Y, Xu N, Du W, Zhao M, Jiang Z, Huang L
This study found that pterygium, a eye condition that can affect vision, involves abnormal activity in hormone-related, metabolic, and Wnt signaling pathways. It identified nine key genes, including NR4A2, that are either overactive or underactive in pterygium tissue and may play a role in disease development.
- NR4A2 is downregulated in pterygium tissue
- Wnt and metabolic pathways are overactive
- Nine genes, including SPP1 and MYH11, are potential targets
- Findings may guide future treatments
- Results are from human tissue in a Chinese population
Transfer of neuron-derived α-synuclein to astrocytes induces neuroinflammation and blood-brain barrier damage after methamphetamine exposure: Involving the regulation of nuclear receptor-associated protein 1.
Huang J, Ding J, Wang X, Gu C, He Y, Li Y, Fan H, Xie Q, Qi X, Wang Z, Qiu P
Methamphetamine exposure causes neurons to transfer alpha-synuclein to astrocytes, which suppresses Nurr1 and triggers neuroinflammation that damages the blood-brain barrier. Restoring Nurr1 levels or blocking alpha-synuclein transfer reduces this damage in animal models.
- Methamphetamine drives alpha-synuclein from neurons into astrocytes, causing brain inflammation.
- This process lowers Nurr1 levels, leading to blood-brain barrier leakage and injury.
- Increasing Nurr1 or blocking alpha-synuclein transfer protects the blood-brain barrier in mice.
- The study focuses on drug-induced toxicity, not NR4A2-related developmental syndromes.
Neuropilin-1 (NRP1) expression distinguishes self-reactive helper T cells in systemic autoimmune disease.
Raveney BJ, El-Darawish Y, Sato W, Arinuma Y, Yamaoka K, Hori S, Yamamura T, Oki S
This study identifies Neuropilin-1 (NRP1) as a marker for self-reactive T cells that drive systemic autoimmune diseases like lupus. Researchers find that reducing these specific T cells improves symptoms in mouse models and that humans with lupus also show increased levels of NRP1-positive T cells.
- NRP1 marks self-reactive helper T cells in autoimmune disease models.
- Reducing NRP1+ T cells ameliorates lupus-like symptoms in mice.
- Human lupus patients show significantly increased peripheral NRP1+ T cells.
- Nr4a2 deficiency reduces self-reactive responses but spares normal immune function.
Identification of diagnostic biomarkers and therapeutic targets in peripheral immune landscape from coronary artery disease.
Feng X, Zhang Y, Du M, Li S, Ding J, Wang J, Wang Y, Liu P
This study identified 14 immune-related genes in blood that can help diagnose advanced coronary artery disease, with NR4A2 among them. The gene NR4A2 was linked to immune and inflammatory processes in atherosclerosis, suggesting it may play a role in disease progression.
- NR4A2 is a potential blood biomarker for advanced coronary artery disease
- The 14-gene model shows strong diagnostic accuracy
- NR4A2 may influence inflammation and cholesterol handling in blood vessels
- IL13RA1, another gene in the model, affects key pathways in atherosclerosis
- Findings suggest possible new treatment targets for heart disease
Potential of immune-related genes as promising biomarkers for premature coronary heart disease through high throughput sequencing and integrated bioinformatics analysis.
Wang H, Shao J, Lu X, Jiang M, Li X, Liu Z, Zhao Y, Zhou J, Lin L, Wang L, Xu Q, Chen Y, Zhang R
NR4A2 is part of a network of genes linked to immune dysfunction in premature coronary heart disease, suggesting it could serve as a biomarker for early detection and potential treatment target, though the findings are not directly about NR4A2-related syndrome in children.
- NR4A2 is part of a gene network tied to immune issues in early heart disease
- The study identifies NR4A2 as a hub gene in a potential biomarker network
- Immune cell changes, including CD4 T cells and neutrophils, are linked to premature heart disease
- NR4A2 may be a target for future therapies or diagnostics
- Findings are based on adult heart disease, not pediatric NR4A2 syndrome
Dopaminergic Neurons Differentiated from LRRK2 I1371V-Induced Pluripotent Stem Cells Display a Lower Yield, α-Synuclein Pathology, and Functional Impairment.
Jagtap S, Potdar C, Yadav R, Pal PK, Datta I
Dopaminergic neurons derived from stem cells with the LRRK2 I1371V mutation show reduced production, impaired function, lower synaptic connectivity, and increased toxic alpha-synuclein buildup, indicating early developmental and functional deficits linked to Parkinson’s disease.
- LRRK2 I1371V mutation reduces dopaminergic neuron yield
- Mutant neurons show weaker dopamine release and calcium response
- Increased alpha-synuclein clumping and phosphorylation
- Fewer synaptic connections and lower maturity markers
- Deficits begin early, at the floor plate cell stage