Acta Neuropathologica Communications最新文献_第2页

Evidence for coordinate CTCF and histone H3.3 activities in K27M diffuse midline gliomas. 协调CTCF和组蛋白H3.3活性在K27M弥漫性中线胶质瘤中的证据。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-05-02 DOI: 10.1186/s40478-026-02290-2

Rachel H Klein, Jennifer Q Yee, Paul S Knoepfler

{"title":"Evidence for coordinate CTCF and histone H3.3 activities in K27M diffuse midline gliomas.","authors":"Rachel H Klein, Jennifer Q Yee, Paul S Knoepfler","doi":"10.1186/s40478-026-02290-2","DOIUrl":"https://doi.org/10.1186/s40478-026-02290-2","url":null,"abstract":"Up to 80% of diffuse midline gliomas (DMGs) are characterized by a lysine to methionine driver mutation (K27M) in the tail of histone variant H3.3, pointing to likely roles for epigenetic mechanisms in K27M-driven tumorigenesis. Understanding the effects of mutant histone H3.3 on the complex patterns of histone modifications and interactions with chromatin structure and modifying enzymes is essential to developing effective combination treatment therapies for K27M DMG such as targeting multiple epigenetic enzymes at once. Here, using a genomics approach, we identified combinatorial patterns of epigenetic modifications that are affected by mutant H3.3 in DMG. We also characterized a strong association between H3.3 and the structural chromatin regulator CTCF, finding that mutant H3.3 leads to ectopic binding of CTCF at many additional sites across the genome in DMG. Notably, a number of these ectopic CTCF binding events occur within the HOX gene loci and are associated with an increase in H3K27me3 levels at bivalent domains and a decrease in HOX gene expression. We also find an association of H3.3 and CTCF at genomic sites adjacent to regions with active or repressive modifications, suggesting a potential role for these two factors in segmenting the chromatin and regulating, perhaps insulating, different types of domains. Together our data suggest that H3.3 K27M both affects epigenetic marks and chromatin organization in part through interaction with CTCF and point to a potentially novel contributory role for CTCF in promoting oncogenesis in DMG. These findings could have potential implications for designing therapy regimens to more effectively target the chromatin changes and genomic instability observed in H3.3K27M glioma cells.","PeriodicalId":6914,"journal":{"name":"Acta Neuropathologica Communications","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147809523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The ATXN2 9 bp duplication in SCA3: clarifying evidence and correcting misinterpretations. SCA3中ATXN2 9 bp的重复：澄清证据和纠正误解。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-05-01 DOI: 10.1186/s40478-026-02305-y

Jose Miguel Laffita-Mesa, Martin Paucar, Per Svenningsson

{"title":"The ATXN2 9 bp duplication in SCA3: clarifying evidence and correcting misinterpretations.","authors":"Jose Miguel Laffita-Mesa, Martin Paucar, Per Svenningsson","doi":"10.1186/s40478-026-02305-y","DOIUrl":"10.1186/s40478-026-02305-y","url":null,"abstract":"Lauerer et al. (Acta Neuropathol Commun 13:157, 2025) recently investigated the role of ATXN2 variants, including intermediate CAG repeats and a 9-bp duplication, in spinocerebellar ataxia type 3 (SCA3). While their study contributes valuable data, several of their interpretations diverge from our previous findings and require clarification. Our original hypothesis was not that the duplication alone modified age at onset, but that its effect emerges in combination with an intermediate-length ATXN2 allele (29 CAGs). Their claim of a protective effect is unsupported by non-significant results, which cannot establish equivalence. Furthermore, evidence from multiple studies demonstrates that both ATG1 and ATG2 can initiate translation, with redundancy explaining the in vivo ~ 140-145 kDa ATXN2 protein, thereby countering the assertion that the duplication is relevant only at the DNA level. We also correct the misattribution of our segregation analyses and emphasize that low frequency does not negate biological significance, as rare variants can act as genetic modifiers. Taken together, convergent DNA, RNA, and protein evidence supports the relevance of the ATXN2 9-bp duplication as part of the broader network of modifiers in SCA3.","PeriodicalId":6914,"journal":{"name":"Acta Neuropathologica Communications","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13137668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147809104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early axonal injury in fentanyl intoxication. 芬太尼中毒早期轴索损伤。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-25 DOI: 10.1186/s40478-026-02299-7

Laura Gomez-Isaza, Olga Pletnikova, Maria Luongo, Meaghan Morris, Xin Ning, Keming Yun, Rebecca Phipps, Thomas G Blanchard, Stephanie Dean, Ling Li, Juan C Troncoso

引用次数: 0

Spatial omics in high-grade glioma: study design, analytical pitfalls, and standards for reproducible neuro-oncology. 高级别神经胶质瘤的空间组学：研究设计、分析缺陷和可重复性神经肿瘤学标准。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-25 DOI: 10.1186/s40478-026-02303-0

Ismail A Abdullah, Itika Arora, Saniyah Shaikh, Thaabit Raziq, Sulaf B Alfares, Touleen T Raslan, Mohammed Shariq Siddiqui, Shamsa Hilal Saleh, Arshiya Akbar, Mohammed Imran Khan, Ahmed Yaqinuddin

引用次数: 0

Usefulness OF SOX10 immunohistochemistry for subtyping diffuse midline gliomas EGFR-altered. SOX10免疫组织化学在egfr改变的弥漫性中线胶质瘤分型中的应用价值。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-24 DOI: 10.1186/s40478-026-02293-z

Arnault Tauziède-Espariat, David Castel, Yassine Ajlil, Jacques Grill, Raphaël Saffroy, Lauren Hasty, Alice Métais, Kevin Beccaria, Nathalie Boddaert, Volodia Dangouloff-Ros, Pascale Varlet

引用次数: 0

GFAP degradation in TBI: linking novel modified products to astrocyte pathology and patient outcome. 脑外伤中GFAP的降解：将新的修饰产物与星形细胞病理和患者预后联系起来。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-24 DOI: 10.1186/s40478-026-02240-y

Ina-Beate Wanner, Julia Halford, Jonathan Lopez, Sean Shen, Yu Chen, Hayden Zhao, Carolina Salas, Rachel Ogorzalek Loo, Steven Robicsek, Benjamin M Ellingson, Jeffrey Gornbein, Timothy E Van Meter, Gerry Shaw, Joseph A Loo, Paul M Vespa

引用次数: 0

The octapeptide repeats of prion protein play critical roles in the pathogenesis of prion diseases. 朊蛋白的八肽重复序列在朊病毒疾病的发病机制中起着至关重要的作用。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-22 DOI: 10.1186/s40478-026-02300-3

Xiangyi Zhang, Jingjing Zhang, Yan Zhang, Dan Wang, Gaixiu Liu, Mengfei Wang, Chaoyang Li, Qi Shi, Xiaoping Dong, Chonggang Yuan, Wenlong Li, Jiyan Ma

引用次数: 0

Complement deposition, IgG subtyping and endplate destruction in LRP4-ab-positive myasthenia gravis. lrp4 -ab阳性重症肌无力的补体沉积、IgG亚型和终板破坏。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-21 DOI: 10.1186/s40478-026-02284-0

Sarah Hoffmann, Katharina Brokamp, Andreas Meisel, Paolo Doksani, Lissy Helmig, Markus Schuelke, Jens-Carsten Rückert, Matthias Pumberger, Friederike Schömig, Marlene Wolfsgruber, Inga Koneczny, Marie Mayrhofer, Martin Blüthner, Tobias Ruck, Marc Pawlitzki, Werner Stenzel, Corinna Preusse

引用次数: 0

Tumor-like proliferation of CCM3 knockout endothelial cells: insights from semaxinib treatment and transcriptome profiling of co-cultures. CCM3敲除内皮细胞的肿瘤样增殖：来自semaxinib治疗和共培养转录组分析的见解

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-20 DOI: 10.1186/s40478-026-02283-1

Valeriia V Saenko, Janne L Feldmann, Dariush Skowronek, Debora Singer, Ole J Schamuhn, Doreen Biedenweg, Sander Bekeschus, Ute Felbor, Matthias Rath, Robin A Pilz

引用次数: 0

The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neurons. 粘附GPCR ADGRV1控制支持神经元的海马星形胶质细胞的谷氨酸稳态。

IF 5.7 2区医学

Acta Neuropathologica Communications Pub Date : 2026-04-19 DOI: 10.1186/s40478-026-02282-2

Baran E Güler, Mark Zorin, Joshua Linnert, Kerstin Nagel-Wolfrum, Uwe Wolfrum

引用次数: 0