Neuropathology and Applied Neurobiology最新文献_第4页

Change in the molecular properties of CH1641 prions after transmission to wild-type mice: Evidence for a single strain. CH1641朊病毒传给野生型小鼠后分子特性的变化：单一菌株的证据

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-02-01 DOI: 10.1111/nan.12963

Lucien J M van Keulen, Corry H Dolstra, Ruth Bossers-de Vries, Alex Bossers, Jorg G Jacobs, Thierry Baron, Juan Maria Torres, Jan P M Langeveld

{"title":"Change in the molecular properties of CH1641 prions after transmission to wild-type mice: Evidence for a single strain.","authors":"Lucien J M van Keulen, Corry H Dolstra, Ruth Bossers-de Vries, Alex Bossers, Jorg G Jacobs, Thierry Baron, Juan Maria Torres, Jan P M Langeveld","doi":"10.1111/nan.12963","DOIUrl":"10.1111/nan.12963","url":null,"abstract":"Aim: CH1641 was discovered in 1970 as a scrapie isolate that was unlike all other classical strains of scrapie isolated so far. We performed bio-assays of CH1641 in mice in order to further characterise this specific isolate.Methods: We inoculated the original CH1641 isolate into ovine and bovine prion protein (PrP) transgenic mice as well as wild-type mice. In addition, we performed cross- and back passages between the various mouse lines to examine if one identical prion strain was isolated in all mouse lines or whether multiple prion strains exist in CH1641.Results: We report the first successful transmission of CH1641 to wild-type RIII mice and via RIII mice to wild-type VM mice. Unexpectedly, analysis of the protease-resistant prion protein (PrPres ) in wild-type mice showed a classical scrapie banding pattern differing from the banding pattern of the original CH1641 isolate. Cross- and back passages of CH1641 between the various mouse lines confirmed that the same prion strain had been isolated in all mouse lines.Conclusions: The CH1641 isolate consists of a single prion strain but its molecular banding pattern of PrPres differs between wild-type mice and PrP transgenic mice. Consequently, molecular banding patterns of PrPres should be used with caution in strain typing since they do not solely depend on the properties of the prion strain but also on the host prion protein.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"50 1","pages":"e12963"},"PeriodicalIF":5.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730119","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

Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain. 炎症性肠病诱导人体肠道和大脑中α-突触核蛋白的病理性聚集。

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-02-01 DOI: 10.1111/nan.12962

Ana M Espinosa-Oliva, Rocío Ruiz, Manuel Sarmiento Soto, Antonio Boza-Serrano, Ana I Rodriguez-Perez, María A Roca-Ceballos, Juan García-Revilla, Marti Santiago, Sébastien Serres, Vasiliki Economopoulus, Ana E Carvajal, María D Vázquez-Carretero, Pablo García-Miranda, Oxana Klementieva, María J Oliva-Martín, Tomas Deierborg, Eloy Rivas, Nicola R Sibson, José L Labandeira-García, Alberto Machado, María J Peral, Antonio J Herrera, José L Venero, Rocío M de Pablos

{"title":"Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain.","authors":"Ana M Espinosa-Oliva, Rocío Ruiz, Manuel Sarmiento Soto, Antonio Boza-Serrano, Ana I Rodriguez-Perez, María A Roca-Ceballos, Juan García-Revilla, Marti Santiago, Sébastien Serres, Vasiliki Economopoulus, Ana E Carvajal, María D Vázquez-Carretero, Pablo García-Miranda, Oxana Klementieva, María J Oliva-Martín, Tomas Deierborg, Eloy Rivas, Nicola R Sibson, José L Labandeira-García, Alberto Machado, María J Peral, Antonio J Herrera, José L Venero, Rocío M de Pablos","doi":"10.1111/nan.12962","DOIUrl":"10.1111/nan.12962","url":null,"abstract":"Aims: According to Braak's hypothesis, it is plausible that Parkinson's disease (PD) originates in the enteric nervous system (ENS) and spreads to the brain through the vagus nerve. In this work, we studied whether inflammatory bowel diseases (IBDs) in humans can progress with the emergence of pathogenic α-synuclein (α-syn) in the gastrointestinal tract and midbrain dopaminergic neurons.Methods: We have analysed the gut and the ventral midbrain from subjects previously diagnosed with IBD and form a DSS-based rat model of gut inflammation in terms of α-syn pathology.Results: Our data support the existence of pathogenic α-syn in both the gut and the brain, thus reinforcing the potential role of the ENS as a contributing factor in PD aetiology. Additionally, we have analysed the effect of a DSS-based rat model of gut inflammation to demonstrate (i) the appearance of P-α-syn inclusions in both Auerbach's and Meissner's plexuses (gut), (ii) an increase in α-syn expression in the ventral mesencephalon (brain) and (iii) the degeneration of nigral dopaminergic neurons, which all are considered classical hallmarks in PD.Conclusion: These results strongly support the plausibility of Braak's hypothesis and emphasise the significance of peripheral inflammation and the gut-brain axis in initiating α-syn aggregation and transport to the substantia nigra, resulting in neurodegeneration.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"50 1","pages":"e12962"},"PeriodicalIF":5.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139723415","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

Comparative interactome mapping of Tau-protein in classical and rapidly progressive Alzheimer's disease identifies subtype-specific pathways. 典型阿尔茨海默病和快速进展性阿尔茨海默病中 Tau 蛋白的相互作用组比较图谱确定了亚型特异性通路。

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-02-01 DOI: 10.1111/nan.12964

Abrar Younas, Neelam Younas, Muhammad Javed Iqbal, Isidre Ferrer, Inga Zerr

{"title":"Comparative interactome mapping of Tau-protein in classical and rapidly progressive Alzheimer's disease identifies subtype-specific pathways.","authors":"Abrar Younas, Neelam Younas, Muhammad Javed Iqbal, Isidre Ferrer, Inga Zerr","doi":"10.1111/nan.12964","DOIUrl":"10.1111/nan.12964","url":null,"abstract":"Aims: Tau is a key player in Alzheimer's disease (AD) and other Tauopathies. Tau pathology in the brain directly correlates with neurodegeneration in AD. The recent identification of a rapid variant of AD demands an urgent need to uncover underlying mechanisms leading to differential progression in AD. Accordingly, we aimed to dissect the underlying differential mechanisms of toxicity associated with the Tau protein in AD subtypes and to find out subtype-dependent biomarkers and therapeutic targets.Methods: To identify and characterise subtype-specific Tau-associated mechanisms of pathology, we performed comparative interactome mapping of Tau protein in classical AD (cAD) and rapidly progressive AD (rpAD) cases using co-immunoprecipitation coupled with quantitative mass spectrometry. The mass spectrometry data were extensively analysed using several bioinformatics approaches.Results: The comparative interactome mapping of Tau protein revealed distinct and unique interactors (DPYSL4, ARHGEF2, TUBA4A and UQCRC2) in subtypes of AD. Interestingly, an analysis of the Tau-interacting proteins indicated enrichment of mitochondrial organisation processes, including negative regulation of mitochondrion organisation, mitochondrial outer membrane permeabilisation involved in programmed cell death, regulation of autophagy of mitochondrion and necroptotic processes, specifically in the rpAD interactome. While, in cAD, the top enriched processes were related to oxidation-reduction process, transport and monocarboxylic acid metabolism.Conclusions: Overall, our results provide a comprehensive map of Tau-interacting protein networks in a subtype-dependent manner and shed light on differential functions/pathways in AD subtypes. This comprehensive map of the Tau-interactome has provided subsets of disease-related proteins that can serve as novel biomarkers/biomarker panels and new drug targets.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"50 1","pages":"e12964"},"PeriodicalIF":5.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139906212","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

WNT-activated, MYC-amplified medulloblastoma displaying intratumoural heterogeneity. WNT激活、MYC扩增的髓母细胞瘤显示出瘤内异质性。

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-02-01 DOI: 10.1111/nan.12945

Sage Green, Travis Hoover, David Doss, Kimberly Davidow, Andrew W Walter, Catherine E Cottrell, Sidharth Mahapatra

引用次数: 0

Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA-methylation profiling. 尿路神经内分泌癌的脑转移：神经病理学家和 DNA 甲基化分析的双重陷阱。

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-02-01 DOI: 10.1111/nan.12951

Arnault Tauziède-Espariat, Julien Masliah-Planchon, Suzanne Tran, Mathilde Filser, Raphaël Saffroy, Dorian Bochaton, Lauren Hasty, Suhan Senova, Paul Kauv, Karima Mokhtari, Clovis Adam, Nicolas Poté, Fabrice Chrétien, Alice Métais, Pascale Varlet, Franck Bielle, Alice Laurenge

引用次数: 0

Slow disease progression and characteristic TDP-43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant. 一名携带TARDBP G357S变异体的家族性肌萎缩侧索硬化症患者病情发展缓慢，TDP-43内含物特征明显。

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-02-01 DOI: 10.1111/nan.12966

Makoto Sainouchi, Shinya Oginezawa, Mari Tada, Tomohiko Ishihara, Osamu Onodera, Akiyoshi Kakita

引用次数: 0

Cover Image, Volume 50, Issue 1 封面图片，第 50 卷第 1 期

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-01-24 DOI: 10.1111/nan.12959

Sage Green, Travis Hoover, David Doss, Kimberly Davidow, Andrew W. Walter, Catherine E. Cottrell, Sidharth Mahapatra

引用次数: 0

Establishment and characterisation of STAM4, a novel human adamantinomatous craniopharyngioma cell line, through human telomerase reverse transcriptase ectopic expression-mediated immortalisation 通过人类端粒酶逆转录酶异位表达介导的永生化，建立新型人类金刚瘤颅咽管瘤细胞系 STAM4 并确定其特征

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2024-01-21 DOI: 10.1111/nan.12958

Chaohu Wang, Huarong Zhang, Rongrong Guo, Ya'nan Cao, Jun Pan, Haoying Yu, Xiaoyu Qiu, Jin Shi, Jun Fan, Songtao Qi, Yi Liu

引用次数: 0

Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation 肢腰先天性肌无力综合征（LG-CMS）中的致病性 DPAGT1 变体与管状聚集体和 ORAI1 低糖基化有关

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2023-12-20 DOI: 10.1111/nan.12952

Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M. Seferian, Edoardo Malfatti, Roberto Silva-Rojas, Clémence Labasse, Frédéric Chevessier, Pierre Carlier, Bruno Eymard, Norma B. Romero, Jocelyn Laporte, Laurent Servais, Teresa Gidaro, Johann Böhm

{"title":"Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation","authors":"Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M. Seferian, Edoardo Malfatti, Roberto Silva-Rojas, Clémence Labasse, Frédéric Chevessier, Pierre Carlier, Bruno Eymard, Norma B. Romero, Jocelyn Laporte, Laurent Servais, Teresa Gidaro, Johann Böhm","doi":"10.1111/nan.12952","DOIUrl":"https://doi.org/10.1111/nan.12952","url":null,"abstract":"Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disorder characterized by muscle weakness and fatigability. The LG-CMS gene DPAGT1 codes for an essential enzyme of the glycosylation pathway, a posttranslational modification mechanism shaping the structure and function of proteins. In DPAGT1-related LG-CMS, reduced glycosylation of the acetylcholine receptor (AChR) reduces its localization at the neuromuscular junction (NMJ), and results in diminished neuromuscular transmission. LG-CMS patients also show tubular aggregates on muscle biopsy, but the origin and potential contribution of the aggregates to disease development are not understood. Here, we describe two LG-CMS patients with the aim of providing a molecular diagnosis and to shed light on the pathways implicated in tubular aggregate formation.","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"58 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138825407","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

Molecular refinement of pilocytic astrocytoma in adult patients. 对成年患者中的朝粒细胞星形细胞瘤进行分子细化。

IF 5 2区医学

Neuropathology and Applied Neurobiology Pub Date : 2023-12-19 DOI: 10.1111/nan.12949

Helena Bode, Catena Kresbach, Dörthe Holdhof, Mario M Dorostkar, Patrick N Harter, Jürgen Hench, Stephan Frank, Abigail K Suwala, Leonille Schweizer, Alicia Eckhardt, Sina Neyazi, Michael Bockmayr, Annika K Wefers, Ulrich Schüller

{"title":"Molecular refinement of pilocytic astrocytoma in adult patients.","authors":"Helena Bode, Catena Kresbach, Dörthe Holdhof, Mario M Dorostkar, Patrick N Harter, Jürgen Hench, Stephan Frank, Abigail K Suwala, Leonille Schweizer, Alicia Eckhardt, Sina Neyazi, Michael Bockmayr, Annika K Wefers, Ulrich Schüller","doi":"10.1111/nan.12949","DOIUrl":"https://doi.org/10.1111/nan.12949","url":null,"abstract":"Aim: Pilocytic astrocytomas (PA) in adults are rare and may be challenging to identify based only on histomorphology. Compared to their paediatric counterparts, they are reportedly molecularly more diverse and associated with a worse prognosis. We aimed to describe the characteristics of adult PAs more precisely by comprehensively profiling a series of 79 histologically diagnosed adult cases (≥18 years).Methods: We performed global DNA methylation profiling and DNA and RNA panel sequencing, and integrated the results with clinical data. We further compared the molecular characteristics of adult and paediatric PAs that had a significant match to one of the established PA methylation classes in the Heidelberg brain tumour classifier.Results: The mean age in our cohort was 33 years, and 43% of the tumours were located supratentorially. Based on methylation profiling, only 39% of the cases received a significant match to a PA methylation class. Sixteen per cent matched a different tumour type and 45% had a Heidelberg classifier score <0.9 with an affiliation to diverse established methylation classes in t-SNE analyses. Although the KIAA1549::BRAF fusion was found in 98% of paediatric PAs, this was true for only 27% of histologically defined and 55% of adult PAs defined by methylation profiling.Conclusions: A particularly high fraction of adult tumours with histological features of PA do not match current PA methylation classes, indicating ambiguous histology and an urgent need for molecular profiling. Moreover, even in adult PAs with a match to a PA methylation class, the distribution of genetic drivers differs significantly from their paediatric counterparts (p<0.01).","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12949"},"PeriodicalIF":5.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808426","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