bims-axbals Biomed News
on Axonal biology and ALS
Issue of 2025–09–21
25 papers selected by
TJ Krzystek



  1. bioRxiv. 2025 Sep 02. pii: 2025.08.28.672801. [Epub ahead of print]
      TDP-43 pathology is a defining pathological hallmark of multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A major feature of TDP-43 pathology is its nuclear depletion, leading to the aberrant inclusion of cryptic exons during RNA splicing. STMN2 and UNC13A have emerged as prominent TDP-43 splicing targets, but the broader impact of TDP-43-dependent cryptic splicing on neuronal function remains unclear. Here, we report new TDP-43 splicing targets critical for membrane excitability and synaptic function, including KALRN, RAP1GAP, SYT7 and KCNQ2. Using human stem cell-derived neurons, we show that TDP-43 reduction induces cryptic splicing and downregulation of these genes, resulting in impaired excitability and synaptic transmission. In postmortem brains from patients with FTD, these cryptic splicing events occur selectively in neurons with TDP-43 pathology. Importantly, suppressing individual cryptic splicing events using antisense oligonucleotides partially restores neuronal function, and combined targeting almost fully rescues the synaptic deficit caused by TDP-43 loss. Together, our findings provide evidence that cryptic splicing in these synaptic and membrane excitability genes is not only a downstream marker but instead a direct driver of neuronal dysfunction, establishing a mechanistic link between TDP-43 pathology and neurodegeneration in ALS and FTD.
    Keywords:  TDP-43; cryptic splicing; membrane excitability; neurodegenerative disease; synaptic function
    DOI:  https://doi.org/10.1101/2025.08.28.672801
  2. Brain. 2025 Sep 12. pii: awaf340. [Epub ahead of print]
      Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by loss of upper and lower motor neurons and progressive muscle wasting. Accumulating evidence indicates a role for non-neuronal cells in ALS pathogenesis, but their exact role and mechanism-of-action remain incompletely understood. A hexanucleotide (GGGGCC) repeat expansion (HRE) in C9ORF72 is the most common genetic cause of ALS (C9-ALS) and a frequent cause of frontotemporal dementia (FTD). Several lines of experimental evidence support a role for the immune system and microglia in C9-ALS/FTD, and, depending on experimental settings and species used, both reduced and increased microglial activity have been reported. To further study microglia in C9-ALS/FTD in the context of a complex, three-dimensional disease environment, we developed cerebral organoids that innately develop microglia derived from induced pluripotent stem cells (iPSCs) of C9-ALS/FTD patients and controls. Here we show reduced cellular complexity and transcriptional changes in C9 neural organoid-derived microglia (C9-oMGs), involving phagocytic, lysosomal and immune response pathways. The release of inflammatory cues from C9-ALS/FTD organoids is decreased and LAMP1 expression in C9-oMGs is reduced. Functional analysis using live imaging reveals impaired phagocytosis by C9-oMGs and reduced engulfment of the post-synaptic protein PSD-95 by C9-oMGs in organoids. Finally, our transcriptomics analysis identifies a PU.1 (encoded by SPI1) regulon as the most strongly downregulated transcription factor network in C9-oMGs. Viral overexpression of PU.1 rescues phagocytosis and gene expression defects in C9-microglia. Overall, our data demonstrate reduced microglial functions in a complex cellular disease environment and identify PU.1 as a potential target for restoring microglia changes in C9-ALS/FTD.
    Keywords:  C9ORF72; amyotrophic lateral sclerosis; microglia; neural organoid; phagocytosis; synapse
    DOI:  https://doi.org/10.1093/brain/awaf340
  3. Chin Med J (Engl). 2025 Sep 16.
       ABSTRACT: Neurodegenerative diseases constitute a group of chronic disorders characterized by the progressive loss of neurons. Major neurodegenerative conditions include Alzheimer's disease, Parkinson's disease, Huntington's disease, frontotemporal lobar degeneration, and amyotrophic lateral sclerosis. Pathologically, these diseases are marked by the accumulation of aggregates formed by pathological proteins such as amyloid-β, tau, α-synuclein, and TAR DNA-binding protein 43. These proteins assemble into amyloid fibrils that undergo prion-like propagation and dissemination, ultimately inducing neurodegeneration. Understanding the biology of these protein aggregates is fundamental to elucidating the pathophysiology of neurodegenerative disorders. In this review, we summarize the molecular mechanisms underlying the aggregation and transmission of pathological proteins, the processes through which these protein aggregates trigger neurodegeneration, and the interactions between different pathological proteins. We also provide an overview of the current diagnostic approaches and therapeutic strategies targeting pathological protein aggregates.
    Keywords:  Alzheimer’s disease; Amyloid-β; Amyotrophic lateral sclerosis; Biomarker; Huntington’s disease; Parkinson’s disease; Tau; α-synuclein
    DOI:  https://doi.org/10.1097/CM9.0000000000003802
  4. Elife. 2025 Sep 19. pii: RP104057. [Epub ahead of print]14
      TDP-43 mislocalization and pathology occurs across a range of neurodegenerative diseases, but the pathways that modulate TDP-43 in neurons are not well understood. We generated a Halo-TDP-43 knock-in human induced pluripotent stem cell (iPSC) line and performed a genome-wide CRISPR interference FACS-based screen to identify modifiers of TDP-43 levels in neurons. A meta-analysis of our screen and publicly available screens identified both specific hits and pathways present across multiple screens, the latter likely responsible for generic protein level maintenance. We identified BORC, a complex required for anterograde lysosome transport, as a specific modifier of TDP-43 protein, but not mRNA, levels in neurons. BORC loss led to longer half-life of TDP-43 and other proteins, suggesting lysosome location is required for proper protein turnover. As such, lysosome location and function are crucial for maintaining TDP-43 protein levels in neurons.
    Keywords:  BORC; CRISPRi screen; TDP-43; cell biology; human; iNeuron; lysosome; neuroscience
    DOI:  https://doi.org/10.7554/eLife.104057
  5. bioRxiv. 2025 Sep 08. pii: 2025.09.07.674666. [Epub ahead of print]
      Lysosomal damage impairs proteostasis and contributes to neurodegenerative diseases, yet cell-type-specific differences in lysosomal repair remain unclear. Using a neuron-astrocyte coculture system, we compared responses to lysosomal injury induced by a lysosomotropic methyl ester. Both neurons and astrocytes showed lysosomal damage, marked by galectin-3 recruitment to lumenal lysosomal β-galactosides, elevated lysosomal pH, and engagement of lysophagy receptors TAX1BP1 and p62. However, astrocytes showed a preferential recruitment of ESCRT repair machinery to damaged lysosomes. Additionally, the lysosomal membrane reformation pathway regulated by the RAB7-GAP, TBC1D15, was more robustly activated in astrocytes. By contrast, the PITT pathway, mediating lipid transfer between the ER and damaged lysosomes, was engaged in both cell types. Our data reveal a divergence in how neurons and astrocytes mobilize repair pathways to manage lysosomal damage. These data may reflect differences in lysosomal resilience between astrocytes and neurons and inform therapeutic strategies to correct lysosomal dysfunction in neurodegenerative diseases.
    DOI:  https://doi.org/10.1101/2025.09.07.674666
  6. bioRxiv. 2025 Sep 05. pii: 2025.09.05.674500. [Epub ahead of print]
      Cytoplasmic aggregation of nuclear proteins such as TDP-43 (TAR DNA-binding protein 43) and FUS (fused in sarcoma) is associated with several neurodegenerative diseases. Studies in higher cells suggest that these aggregates of TDP-43 and FUS sequester polysomes by binding RACK1 (receptor for activated C kinase 1), a ribosomal protein, thereby inhibiting global translation and contributing to toxicity. But RACK1 is also a scaffold protein with many other roles including a role in autophagy. Using yeast we find that deletion of the RACK1 ortholog, ASC1 , reduces TDP-43 toxicity, but not FUS toxicity. TDP-43 foci remain liquid like in the presence asc1Δ but they become smaller. This is consistent with the findings in cell culture. However, using double label tags we establish that ASC1 does not co-localize with TDP-43 foci, arguing against the sequestration hypothesis. Instead, ASC1 appears to influence toxicity through autophagy. We previously showed that expression of TDP-43 inhibits autophagy and TOROID (TORC1 Organized in Inhibited Domains) formation and that modifiers that rescue yeast from TDP-43 toxicity reverse these inhibitions. Here we show that FUS does not inhibit autophagy. This autophagy enhanced by asc1Δ is non-canonical, marked by reduced TOROID formation, and effectively counteracts the autophagy inhibition caused by TDP-43. Our findings suggest that ASC1 influences TDP-43 toxicity through autophagy regulation rather than polysome sequestration, highlighting autophagy as a key therapeutic target.
    Summary: TDP-43 and FUS aggregates are linked to neurodegenerative diseases. RACK1, a ribosomal protein, was previously thought to contribute to toxicity by co-localizing with these aggregates and sequestering polysomes. In yeast, deletion of ASC1 -the RACK1 homolog-reduces TDP-43 toxicity but not FUS toxicity. TDP-43 foci remain liquid-like, but ASC1 does not co-localize with them, challenging the sequestration hypothesis. Instead, asc1Δ enhances autophagy, rescuing cells from the autophagy inhibition caused by TDP-43. Unlike TDP-43, FUS does not inhibit autophagy. These findings highlight autophagy, rather than polysome sequestration, as the key mechanism of TDP-43 toxicity and its mitigation via ASC1/RACK1 reduction.
    DOI:  https://doi.org/10.1101/2025.09.05.674500
  7. bioRxiv. 2025 Sep 09. pii: 2025.09.04.674013. [Epub ahead of print]
      Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons. Here, we have profiled motor neuron microRNAs (miRNAs) during motor neuron degeneration in vivo to gain a better understanding of ALS pathophysiology. We demonstrate that one miRNA, miR-146a, is downregulated in diseased motor neurons despite upregulation in bulk tissue. Genetic deletion of miR-146a significantly extended survival in SOD1 G93A mice with heterozygous animals demonstrating the largest benefit. A corresponding reduction in spinal cord gliosis but not motor neuron loss was observed. Finally, we observed that a proportion of miR-146a knockout animals develop spontaneous paralysis, motor neuron loss and chronic neuroinflammation with advanced age. Together these findings demonstrate that a single miRNA influences multiple aspects of motor neuron disease and highlights the complex role for neuroinflammation in ALS pathogenesis.
    DOI:  https://doi.org/10.1101/2025.09.04.674013
  8. Neurobiol Dis. 2025 Sep 15. pii: S0969-9961(25)00320-1. [Epub ahead of print] 107103
       BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive degeneration of motor neurons and early deterioration of neuromuscular junctions (NMJs). Increasing evidence indicates that mitochondrial dysfunction plays a pivotal role in driving NMJ degeneration in ALS.
    OBJECTIVE: This review aims to comprehensively summarize the molecular mechanisms by which mitochondrial defects contribute to NMJ instability, with a particular focus on bioenergetics, calcium homeostasis, oxidative stress, and impaired mitochondrial biogenesis.
    CONCLUSION: Mitochondrial dysfunction is a core driver of NMJ degeneration in ALS. Targeting mitochondrial biogenesis and metabolism-particularly through the PGC-1α pathway-represents a promising strategy to preserve NMJ integrity and slow disease progression.
    Keywords:  Amyotrophic lateral sclerosis; Calcium homeostasis; Mitochondria; Mitochondrial biogenesis; Neuromuscular junction; PGC-1α; ROS
    DOI:  https://doi.org/10.1016/j.nbd.2025.107103
  9. Brain. 2025 Sep 12. pii: awaf336. [Epub ahead of print]
      Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by ubiquitous SMN deficiency and loss of motor neurons. The persistence of motor and communication impairments, together with emerging cognitive and social deficits in severe Type I SMA patients treated early with SMN-restoring therapies, suggests a broader dysfunction involving neural circuits of the brain. To explore the potential supraspinal contributions to these emerging phenotypes, we investigated the cerebellum, a brain region critical for both motor and cognitive behaviors. Here, we identify cerebellar pathology in both post-mortem tissue from Type I SMA patients and a severe mouse model, which is characterized by lobule-specific Purkinje cell (PC) death driven by cell-autonomous, non-apoptotic p53-dependent mechanisms. Loss and dysfunction of excitatory parallel fiber synapses onto PC further contribute to cerebellar circuit disruption and altered PC firing. Furthermore, we identified impaired ultrasonic vocalization (USV) in a severe SMA mouse model-a proxy for early-developing social communication skills that depend on cerebellar function. Cell-specific rescue experiments demonstrate that intrinsic cerebellar pathology contributes to motor and social communication impairments independently of spinal motor circuit abnormalities. Together, these findings establish cerebellar dysfunction as a pathogenic driver of neurodevelopmental motor and social defects, providing mechanistic insight into the persisting and emerging phenotypes of SMA.
    Keywords:  autism-like behavior; cerebellar circuit dysfunction; motor neuron diseases; neuronal death; social deficits
    DOI:  https://doi.org/10.1093/brain/awaf336
  10. Glia. 2025 Sep 15.
      Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder involving multiple cell types in the central nervous system. The key pathological features of ALS include the degeneration of motor neurons and the initiation and propagation of neuroinflammation mediated by nonneuronal cell types such as microglia. Currently, the specific mechanisms underlying the involvement of microglia in neuroinflammation in ALS are unclear. Consequently, we generated several human-induced pluripotent stem cell (iPSC) derived motor neuron and microglia cocultures. We utilized ALS patient-derived iPSCs carrying a common genetic variant, the hexanucleotide repeat expansion (HRE) in C9ORF72, as well as C9ORF72 knockout (KO) iPSC lines. iPSC-derived motor neurons and microglia demonstrated expression of cell type-specific markers and were functional. Phenotypic assessments on motor neurons and microglia in mono- and cocultures identified dysfunction in the expression and secretion of inflammatory cytokines and chemokines in lipopolysaccharide (LPS)-stimulated C9ORF72 HRE and C9ORF72 KO microglia. Analysis of single-cell RNA sequencing data from microglia and motor neuron cocultures revealed cell type-specific transcriptomic changes. Specifically, we detected the removal of an LPS-responsive microglia subpopulation, correlating with a dampened inflammatory response in C9ORF72 HRE and C9ORF72 KO microglia. Overall, our results support the critical role of microglia-mediated neuroinflammation in ALS pathology, and our iPSC-derived models should prove a valuable platform for further mechanistic studies of ALS-associated pathways.
    Keywords:  ALS; coculture; iPSCs; microglia; motor neuron; neuroinflammation; single‐cell RNA sequencing
    DOI:  https://doi.org/10.1002/glia.70084
  11. Cell Biochem Funct. 2025 Sep;43(9): e70118
      Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality, primarily characterized by the deficiency of survival motor neuron (SMN) protein. The effects of SMA are not limited to the nervous system but also encompass multiple cell types. Fibroblasts have been extensively employed as primary disease model cells in SMA pathophysiological studies. Here, we present a comprehensive summary of the pivotal roles fibroblasts play in SMA research, focusing on how SMN deficiency modulates the response characteristics of fibroblasts. Our findings reveal distinct reactivity patterns in fibroblasts, which serve as representative Non-neuronal cells, compared to motor neurons in SMA. This review underscores the crucial roles of fibroblasts in elucidating mechanistic changes, advancing drug discovery, and identifying reliable biomarkers for SMA. These insights underscore the indispensable potential of fibroblasts in future SMA research endeavors.
    Keywords:  biomarkers; drug discovery; fibroblasts; mechanistic changes; non‐neuronal cells; spinal muscular atrophy
    DOI:  https://doi.org/10.1002/cbf.70118
  12. Aging Cell. 2025 Sep 19. e70232
      Microglia, the brain's resident immune cells, are crucial for maintaining healthy brain homeostasis. However, as the brain ages, microglia can shift from a neuroprotective to a neurotoxic phenotype, contributing to chronic inflammation and promoting neurodegenerative processes. Despite the importance of understanding microglial aging, there are currently few human in vitro models to study these processes. To address this gap, we have developed a model in which human microglia undergo accelerated aging through inducible progerin expression. HMC3-Progerin cells display key age-related markers such as activation of the senescence-associated secretory phenotype (SASP) as well as an increase in DNA damage. These prematurely aged HMC3 cells show a reduced response to LPS activation, exhibit impairments in essential microglial functions including decreased migration and phagocytosis as well as transcriptomic alterations including a shift observed in aging and neurodegeneration. Additionally, we observed an impaired stress response and a defect in nucleocytoplasmic transport, especially affecting the amyotrophic lateral sclerosis (ALS) associated protein FUS. This suggests that microglia play a contributory role in driving neurodegenerative processes in the aging brain. Our microglia aging model offers a valuable tool for exploring how aged microglia affect brain function, enhancing our understanding of their role in brain aging.
    Keywords:  FUS; aging; aging clock; amyotrophic lateral sclerosis; microglia; nucleocytoplasmic shuttling; progerin; senolytics
    DOI:  https://doi.org/10.1111/acel.70232
  13. Acta Neuropathol. 2025 Sep 19. 150(1): 33
      Oligodendroglial alpha-synuclein (aSyn) deposits are a key feature in the atypical parkinsonian disorder, multiple system atrophy (MSA) linked to profound myelin loss and neurodegeneration while precise cellular and molecular mechanisms remain unclear. We generated human oligodendrocytes (hOLs) from induced pluripotent stem cells to investigate the impact of aSyn on oligodendroglial morphology, differentiation, and function. We observed an aSyn-induced myelinogenic dysfunction characterized by impaired oligodendroglial process outgrowth, altered cell shape, and increased perinuclear accumulation of the tubulin polymerization promoting protein TPPP/p25α. These changes were associated with a reduced capacity to ensheath axons and were linked to compromised actin remodeling machinery. Actin imbalances were confirmed in post-mortem putaminal tissue from MSA patients. Treatment with a rho-associated protein kinase inhibitor rescued oligodendroglial process formation and improved ensheathment in aSyn-expressing hOLs. Our work emphasizes the aSyn-mediated interference with actin dynamics as a key pathogenic mechanism in MSA, pointing toward a novel therapeutic target for improving myelin maintenance.
    Keywords:  Actin; Alpha synuclein; Human oligodendrocytes; Multiple system atrophy; Myelin
    DOI:  https://doi.org/10.1007/s00401-025-02933-z
  14. Cell Biochem Funct. 2025 Sep;43(9): e70119
      The fate of mRNA in human cells is a critical aspect of gene regulation, encompassing both post-translation degradation and subcellular localization. This review explores the critical role of mRNA fate in human cells, focusing on post-translation degradation and subcellular localization. mRNA degradation, including mechanisms like nonsense-mediated decay, ensures the elimination of defective and unnecessary transcripts, thereby preventing harmful protein accumulation. Simultaneously, subcellular localization directs mRNA to specific organelles, such as the endoplasmic reticulum and mitochondria, facilitating localized protein synthesis essential for cellular function. We highlight the importance of these processes in maintaining cellular homeostasis, particularly in neurons and cancer cells, where dysregulation can lead to disease. By understanding these processes, new therapeutic strategies can be developed to target diseases associated with mRNA dysregulation.
    Keywords:  mRNA decay; mitochondrial mRNA; ribonucleoproteins (RNP); sub‐cellular localized translation
    DOI:  https://doi.org/10.1002/cbf.70119
  15. Protein Sci. 2025 Oct;34(10): e70295
      TAR DNA-binding Protein 43 kilodaltons (TDP-43) plays a crucial role in the pathophysiology and progression of amyotrophic lateral sclerosis, affecting familial and sporadic cases. TDP-43 is an intrinsically disordered multidomain protein that consists of an N-terminal domain (NTD1-102), two tandem RNA recognition motifs (RRM1102-177 and RRM2191-260), and an intrinsically disordered glycine-rich C-terminal261-414 domain. We previously identified a chemical probe that led to allosteric alterations between the RRM and NTD of TDP-43. We attributed these changes to potential interdomain interactions between the NTD and RRM segments. In this work, we compared the 2D [1H,15N] HSQC-NMR resonances of two constructs, TDP-43102-260 (RRM domain alone) against TDP-431-260 (NTD linked to RRM) and observed clustered shifts in the RNA-binding sites of both RRM domains. To investigate why these shifts appeared in the RRM domains in the absence of RNA, we hypothesized that the NTD domain could be stacking on the RRM domains. Thus, we modeled NTD-RRM interactions using protein-protein docking of TDP-43 subdomains that propose NTD stacking onto the RRM domains. Using Carr-Purcell-Meiboom-Gill NMR spectroscopy, we demonstrated evidence of an interaction between NTD1-102 and RRMs102-260. Finally, we investigated the impact of NTD on RNA binding using 2D 15N-HSQC-NMR and microscale thermophoresis by titration of a short UG-rich RNA sequence and observed significant changes in RNA binding between TDP-43102-260 and TDP-431-260, further suggesting the NTD plays a role in TDP-43 RNA interactions.
    Keywords:  CPMG NMR; HSQC‐NMR interdomain interaction; MST; TDP‐43
    DOI:  https://doi.org/10.1002/pro.70295
  16. Sens Actuators Rep. 2025 Jun;pii: 100259. [Epub ahead of print]9
      Lysosomes are multifunctional organelles that serve as the cell's central hub for metabolic signaling. Lysosomal malfunction disrupts intracellular homeostasis, leading to adverse health effects. Therefore, assessing lysosomal function is vital for advancing disease understanding and guiding therapeutic development. The existing evaluation methods rely primarily on monitoring lysosomal pH and protein degradation. Here we introduce a DNA-based reporter to evaluate lysosomal activity by assessing the DNA-degradation ability of lysosomes using fluorescence imaging. We successfully monitored the lysosomal DNA-degradation ability in dysregulated lysosomes and lysosomes in drug-induced disease model of NP-A/B and NP-C. We found that both pharmacologically induced models resulted in significant reduction in lysosomal DNA-degradation ability. This tool for monitoring lysosomal activity offers valuable insights for both therapeutic development and understanding disease progression.
    Keywords:  DNA-sensor; FRET; fluorescence imaging; lysosomal storage disease; lysosomes
    DOI:  https://doi.org/10.1016/j.snr.2024.100259
  17. MedComm (2020). 2025 Sep;6(9): e70330
      Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that lacks ideal models to comprehensively recapitulate its pathological features. TDP-43 pathology, a hallmark of neurodegenerative diseases, plays a critical role in disease progression. Given the anatomical and physiological similarities between pig and human brains, large animal models offer a unique advantage in more accurately simulating patient-specific disease characteristics. In this study, we rapidly established a TDP-43-induced neurodegenerative disease model in pigs through ear vein injection of the TDP-43M337V virus. Disease progression was systematically evaluated using behavioral assessments and pathological analyses. This porcine model produced extremely severe motor dysfunction accompanied by significant muscle atrophy and fibrosis. Additionally, characteristic TDP-43 pathological phenotypes were observed, including degeneration of spinal motor neurons and proliferation of glial cells in both the brain and spinal cord. Notably, TDP-43M337V induction led to a significant upregulation of TMEM106B, SOD1, and APOE4 levels. This TDP-43 porcine model recapitulates multiple key features of ALS and serves as a valuable complement to existing animal models, providing a robust platform for investigating TDP-43-related pathogenic mechanisms of TDP-43 and developing effective therapeutics.
    Keywords:  APOE4; SOD1; TDP‐43; amyotrophic lateral sclerosis; movement disorder; pig model
    DOI:  https://doi.org/10.1002/mco2.70330
  18. Cell Rep. 2025 Sep 15. pii: S2211-1247(25)01051-4. [Epub ahead of print]44(9): 116280
      Neurons and astrocytes play critical yet divergent roles in brain physiology and neurological conditions. Intracellular organelles are integral to cellular function. However, an in-depth characterization of organelles in live neural cells has not been performed. Here, we use multispectral imaging to simultaneously visualize six organelles-endoplasmic reticulum (ER), lysosomes, mitochondria, peroxisomes, Golgi, and lipid droplets-in live primary rodent neurons and astrocytes. We generate a dataset of 173 z stack and 98 time-lapse images, accompanied by quantitative "organelle signature" analysis. Comparative analysis reveals a clear cell-type specificity in organelle morphology and interactions. Neurons are characterized by prominent mitochondrial composition and interactions, while astrocytes contain more lysosomes and lipid droplet interactions. Additionally, neurons display a more robust organelle response than astrocytes to acute oxidative or ER stress. Our data provide a systems-level characterization of neuron and astrocyte organelles that can be a reference for understanding cell-type-specific physiology and disease.
    Keywords:  CP: Cell biology; CP: Neuroscience; Golgi; astrocytes; endoplasmic reticulum; lipid droplets; lysosomes; microscopy; mitochondria; neurons; organelles; peroxisomes
    DOI:  https://doi.org/10.1016/j.celrep.2025.116280
  19. bioRxiv. 2025 Sep 10. pii: 2025.09.05.674448. [Epub ahead of print]
      Axon termination is a critical step in neural circuit formation, but the contribution of activity from postsynaptic targets to this process remains unclear. Using Caenorhabditis elegans SAB neurons as a model system, we showed that inhibition of muscle activity during a critical period of postembryonic development led to axonal overgrowth and ectopic synapse formation. This effect is mediated by a local retrograde signal and requires neuronal voltage-gated calcium channels (VGCCs) acting cell-autonomously to constrain axon growth. Manipulating SAB neuron excitability demonstrated that increased intrinsic neuronal activity drives overgrowth, while reducing activity suppresses it, establishing a functional link between muscle-derived cues and presynaptic excitability. Transcriptomic analysis and genetic studies further implicate the neuropeptides FLP-18 and NLP-12 as essential modulators of this activity-dependent process. Our findings reveal a temporally and spatially restricted retrograde signaling mechanism in motor neurons, where target activity, neuronal calcium dynamics and neuropeptide signaling cooperate to ensure proper axon termination. These results highlight conserved principles of activity-dependent regulation at neuromuscular junctions and provide a framework for understanding how motor circuits integrate target feedback to sculpt precise connectivity.
    DOI:  https://doi.org/10.1101/2025.09.05.674448
  20. J Neurochem. 2025 Sep;169(9): e70231
      Extracellular vesicles (EVs) are membranous structures that cells release into the extracellular space. EVs carry various molecules such as proteins, lipids, and nucleic acids, and serve as specialized transporters to influence other cells. In the central nervous system, EVs have been linked to many important processes, including intercellular communication, but molecular details of their physiological functions are not fully understood. Our study aimed to investigate how EVs are released by neuronal cells, and how they affect the neuronal activity of other recipient neurons. We show that mature primary cortical neurons release EVs from both their soma and dendrites. EVs released from neurons closely resemble non-neuronal EVs regarding size and marker proteins, and proteomic analyses showed that neuronally released EVs contain proteins typically acting in pre- and post-synaptic compartments. Interestingly, our analysis revealed that EVs alter spontaneous activity in target neurons by increasing the amplitude of postsynaptic potentials. In summary, our findings elaborate on the role of EVs in synaptic activity modulation in neurons mediated by glutamate receptors.
    Keywords:  NMDA receptor; cortex; extracellular vesicles; hippocampus; synaptic activity
    DOI:  https://doi.org/10.1111/jnc.70231
  21. Sci Adv. 2025 Sep 19. 11(38): eadw4124
      The Huntingtin protein (HTT), named for its role in Huntington's disease, has been best understood as a scaffolding protein that promotes vesicle transport by molecular motors along microtubules. Here, we show that HTT also interacts with the actin cytoskeleton, and its loss of function disturbs the morphology and function of the axonal growth cone. We demonstrate that HTT organizes F-actin into bundles. Cryo-electron tomography (cryo-ET) and subtomogram averaging (STA) structural analyses reveal that HTT's N-terminal HEAT and Bridge domains wrap around F-actin, while the C-terminal HEAT domain is displaced; furthermore, HTT dimerizes via the N-HEAT domain to bridge parallel actin filaments separated by ~20 nanometers. Our study provides the structural basis for understanding how HTT interacts with and organizes the actin cytoskeleton.
    DOI:  https://doi.org/10.1126/sciadv.adw4124
  22. Curr Aging Sci. 2025 Sep 11.
      Huntington's disease (HD) is a severe neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, leading to the production of a mutant huntingtin protein. This mutation results in progressive motor, cognitive, and psychiatric impairments, alongside significant neuronal loss. Mitochondrial dysfunction plays a pivotal role in the pathophysiology of HD, contributing to disease progression and neuronal death. This article aims to evaluate small molecule-based therapeutic strategies designed to enhance mitochondrial function as a potential approach to alleviate symptoms and slow the progression of HD and related neurodegenerative disorders. A comprehensive review of recent literature is conducted to identify small molecules targeting mitochondrial dysfunction from Google Scholar, Pub- Med/Medline/PMC, ScienceDirect, Elsevier, Google Patents, and Clinicaltrials.gov.in, among others. The analysis focuses on their mechanisms of action, including reducing oxidative stress, enhancing mitochondrial biogenesis, and improving mitochondrial dynamics and function. The review identifies several promising small molecules capable of targeting mitochondrial dysfunction. These agents demonstrate potential in preclinical studies to alleviate HD symptoms and modify disease progression by addressing key aspects of mitochondrial health. Small molecule therapies targeting mitochondrial dysfunction offer considerable promise for treating HD. However, further research is required to optimize these therapies for clinical use and to evaluate their long-term impact on disease progression to fully establish their therapeutic efficacy.
    Keywords:  Huntington’s disease; gene therapy; mitochondrial dysfunction.; mutant huntingtin; neurodegeneration
    DOI:  https://doi.org/10.2174/0118746098387655250818072130
  23. PLoS Biol. 2025 Sep 16. 23(9): e3003393
      VPS13 is the founding member of a family of proteins that mediate lipid transfer at intracellular membrane contact sites by a bridge-like mechanism. Mammalian genomes comprise 4 VPS13 genes encoding proteins with distinct localizations and function. The gene duplication resulting in VPS13A and VPS13C is the most recent in evolution and, accordingly, these two proteins are the most similar to each other. However, they have distinct subcellular localizations and their loss of function mutations in humans are compatible with life but result in two different age-dependent neurodegenerative diseases, chorea-acanthocytosis and Parkinson's disease, respectively. Thus, it remains unclear whether these two proteins have overlapping functions. Here, we show that while Vps13a KO and Vps13c KO mice are viable, embryonic development of Vps13a/Vps13c double knockout (DKO) mice is arrested at midgestation. Prior to death, DKO embryos were smaller than controls, were anemic and had a smaller liver, most likely reflecting defective embryonic erythropoiesis which at this developmental stage occurs primarily in this organ. Further analyses of erythroid precursor cells showed that their differentiation was impaired and that this defect was accompanied by activation of innate immunity as revealed by upregulation of interferon stimulated genes (ISGs). Additionally, the RIG-I and MDA5 components of dsRNA triggered innate immunity were found upregulated in the DKO fetal liver. Activation of innate immunity may result from loss of integrity of the membranes of intracellular organelles, such as mitochondria and autophagic lysosomes, or to impaired autophagy, due to the absence of these lipid transport proteins. The surprising and striking synthetic effect resulting for the combined loss of VPS13A and VPS13C suggests that despite of the different localization of these two proteins, the lipid fluxes that they mediate are partially redundant.
    DOI:  https://doi.org/10.1371/journal.pbio.3003393
  24. Theranostics. 2025 ;15(17): 9240-9260
      Background: Lysosomal dysfunction could be an underlying cause of Alzheimer's disease, with Tau oligomer being an important inducer or amplifier of lysosomal stress associated with the disease. Tau oligomer is a well-known substrate of autophagy, and selective degradation of Tau with Tau-specific autophagy degrader might be feasible. Methods: Tau-specific autophagic degraders were synthesized by combining leucomethylene blue, linkers and a lysosomal degradation tag (Autac). Tau clearance and changes of Tau-mediated lysosomal stress by these degraders were studied in vitro. In vivo effects of a Tau-specific degrader were investigated employing a combined Tau/Aβ mutant mouse model characterized by an accelerated onset of neurological deficits. Human relevance was investigated using induced pluripotent stem cell (iPSC)-derived neuronal cells from an Alzheimer's disease patient. Results: Among Tau-specific Autac degraders, TauAutac-3 (TA-3) efficiently degraded Tau oligomer and monomer, an effect inhibited by bafilomycin A1, suggesting lysosomal Tau degradation. TA-3 treatment induced LC3, K63, OPTN or NDP52 puncta, which was partially colocalized with Tau oligomer. Signs of lysosomal stress, such as galectin-3 puncta, pHluorin fluorescence, altered lysosomal pH and CHMP2B recruitment, induced by Tau expression were reversed by TA-3. Autophagy impairment by Tau expression in vitro, likely due to lysosomal stress, was also reversed by TA-3. In vivo, TA-3 administration markedly reduced the accumulation of both Tau and Aβ in 6xTg mice, which was associated with amelioration of Tau-mediated lysosomal stress and autophagy impairment. Neuroinflammation characterized by increased numbers of GFAP+ glial cells and Iba1+ microglial cells, was also reduced following TA-3 administration. TA-3 remarkably improved neurologic deficits in 6xTg mice, such as impaired memory and reduced exploratory behavior. TA-3 reduced Tau and phospho-Tau accumulation in iPSC-derived neuronal cells from an Alzheimer's disease patient. Conclusion: These results suggest that Tau-specific autophagic (Autac) degraders could serve as novel therapeutic agents for Alzheimer's disease through reduction of Tau-mediated lysosomal stress.
    Keywords:  Alzheimer's disease; Tau; autophagy; lysosomal stress; specificity
    DOI:  https://doi.org/10.7150/thno.118409
  25. J Cell Biol. 2025 Oct 06. pii: e202509030. [Epub ahead of print]224(10):
      Lysosome stress responses are emerging, but their connections to normal physiology are not well understood. In this issue, Duque et al. (https://doi.org/10.1083/jcb.202503166) discover that the autophagy protein ATG16L, a mediator of a stress response called CASM, also regulates normal lysosome function.
    DOI:  https://doi.org/10.1083/jcb.202509030