journal
https://read.qxmd.com/read/38418708/astroglial-calcium-signaling-and-homeostasis-in-tuberous-sclerosis-complex
#1
JOURNAL ARTICLE
Alessia Romagnolo, Giulia Dematteis, Mirte Scheper, Mark J Luinenburg, Angelika Mühlebner, Wim Van Hecke, Marcello Manfredi, Veronica De Giorgis, Simone Reano, Nicoletta Filigheddu, Valeria Bortolotto, Laura Tapella, Jasper J Anink, Liesbeth François, Stefanie Dedeurwaerdere, James D Mills, Armando A Genazzani, Dmitry Lim, Eleonora Aronica
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the brain, and is often accompanied by epilepsy, neurodevelopmental comorbidities including intellectual disability and autism. A key hallmark of TSC is the hyperactivation of the mechanistic target of rapamycin (mTOR) signaling pathway, which induces alterations in cortical development and metabolic processes in astrocytes, among other cellular functions. These changes could modulate seizure susceptibility, contributing to the progression of epilepsy and its associated comorbidities...
February 28, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38413411/disruption-of-the-blood-brain-barrier-is-correlated-with-spike-endocytosis-by-ace2%C3%A2-%C3%A2-endothelia-in-the-cns-microvasculature-in-fatal-covid-19-scientific-commentary-on-detection-of-blood-brain-barrier-disruption-in-brains-of-patients-with-covid-19-but-no-evidence
#2
JOURNAL ARTICLE
https://read.qxmd.com/read/38411740/myofiber-type-dependent-boulder-or-multitudinous-pebble-formations-across-distinct-amylopectinoses
#3
JOURNAL ARTICLE
Sharmistha Mitra, Baozhi Chen, John M Shelton, Silvia Nitschke, Jun Wu, Lindsay Covington, Mathew Dear, Tori Lynn, Mayank Verma, Felix Nitschke, Yasuhiro Fuseya, Kazuhiro Iwai, Bret M Evers, Berge A Minassian
At least five enzymes including three E3 ubiquitin ligases are dedicated to glycogen's spherical structure. Absence of any reverts glycogen to a structure resembling amylopectin of the plant kingdom. This amylopectinosis (polyglucosan body formation) causes fatal neurological diseases including adult polyglucosan body disease (APBD) due to glycogen branching enzyme deficiency, Lafora disease (LD) due to deficiencies of the laforin glycogen phosphatase or the malin E3 ubiquitin ligase and type 1 polyglucosan body myopathy (PGBM1) due to RBCK1 E3 ubiquitin ligase deficiency...
February 27, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38407651/cortical-sparing-chronic-traumatic-encephalopathy-cscte-a-distinct-subtype-of-cte
#4
JOURNAL ARTICLE
Abigail Alexander, Victor E Alvarez, Bertrand R Huber, Michael L Alosco, Jesse Mez, Yorghos Tripodis, Raymond Nicks, Douglas I Katz, Brigid Dwyer, Daniel H Daneshvar, Brett Martin, Joseph Palmisano, Lee E Goldstein, John F Crary, Christopher Nowinski, Robert C Cantu, Neil W Kowall, Robert A Stern, Ivana Delalle, Ann C McKee, Thor D Stein
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease caused by repetitive head impacts (RHI) and pathologically defined as neuronal phosphorylated tau aggregates around small blood vessels and concentrated at sulcal depths. Cross-sectional studies suggest that tau inclusions follow a stereotyped pattern that begins in the neocortex in low stage disease, followed by involvement of the medial temporal lobe and subcortical regions with significant neocortical burden in high stage CTE. Here, we define a subset of brain donors with high stage CTE and with a low overall cortical burden of tau inclusions (mean semiquantitative value ≤1) and classify them as cortical-sparing CTE (CSCTE)...
February 26, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38386085/met-receptor-serves-as-a-promising-target-in-melanoma-brain-metastases
#5
JOURNAL ARTICLE
Torben Redmer, Elisa Schumann, Kristin Peters, Martin E Weidemeier, Stephan Nowak, Henry W S Schroeder, Anna Vidal, Helena Radbruch, Annika Lehmann, Susanne Kreuzer-Redmer, Karsten Jürchott, Josefine Radke
The development of brain metastases hallmarks disease progression in 20-40% of melanoma patients and is a serious obstacle to therapy. Understanding the processes involved in the development and maintenance of melanoma brain metastases (MBM) is critical for the discovery of novel therapeutic strategies. Here, we generated transcriptome and methylome profiles of MBM showing high or low abundance of infiltrated Iba1high tumor-associated microglia and macrophages (TAMs). Our survey identified potential prognostic markers of favorable disease course and response to immune checkpoint inhibitor (ICi) therapy, among them APBB1IP and the interferon-responsive gene ITGB7...
February 22, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38376654/aggressive-human-meng-c-meningiomas-have-a-molecular-counterpart-in-canines
#6
JOURNAL ARTICLE
Akdes S Harmanci, Beth Boudreau, Sean Lau, Shervin Hosseingholi Nouri, Jacob J Mandel, Hsiang-Chih Lu, Arif O Harmanci, Tiemo J Klisch, Jonathan M Levine, Akash J Patel
No abstract text is available yet for this article.
February 20, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38376604/canine-meningiomas-are-comprised-of-3-dna-methylation-groups-that-resemble-the-molecular-characteristics-of-human-meningiomas
#7
JOURNAL ARTICLE
Naomi Zakimi, Christina N Mazcko, Christine Toedebusch, Gregory Tawa, Kevin Woolard, Amy K LeBlanc, Peter J Dickinson, David R Raleigh
No abstract text is available yet for this article.
February 20, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38363426/pp2a-and-gsk3-act-as-modifiers-of-fus-als-by-modulating-mitochondrial-transport
#8
JOURNAL ARTICLE
Paraskevi Tziortzouda, Jolien Steyaert, Wendy Scheveneels, Adria Sicart, Katarina Stoklund Dittlau, Adriana Margarida Barbosa Correia, Thibaut Burg, Arun Pal, Andreas Hermann, Philip Van Damme, Thomas G Moens, Ludo Van Den Bosch
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which currently lacks effective treatments. Mutations in the RNA-binding protein FUS are a common cause of familial ALS, accounting for around 4% of the cases. Understanding the mechanisms by which mutant FUS becomes toxic to neurons can provide insight into the pathogenesis of both familial and sporadic ALS. We have previously observed that overexpression of wild-type or ALS-mutant FUS in Drosophila motor neurons is toxic, which allowed us to screen for novel genetic modifiers of the disease...
February 16, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38353753/regional-at-8-reactive-tau-species-correlate-with-intracellular-a%C3%AE-levels-in-cases-of-low-ad-neuropathologic-change
#9
JOURNAL ARTICLE
Nauman Malik, Mohi-Uddin Miah, Alessandro Galgani, Kirsty McAleese, Lauren Walker, Fiona E LeBeau, Johannes Attems, Tiago F Outeiro, Alan Thomas, David J Koss
The amyloid cascade hypothesis states that Aβ aggregates induce pathological changes in tau, leading to neurofibrillary tangles (NFTs) and cell death. A caveat with this hypothesis is the spatio-temporal divide between plaques and NFTs. This has been addressed by the inclusion of soluble Aβ and tau species in the revised amyloid cascade hypothesis. Nevertheless, despite the potential for non-plaque Aβ to contribute to tau pathology, few studies have examined relative correlative strengths between total Aβ, plaque Aβ and intracellular Aβ with tau pathology within a single tissue cohort...
February 14, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38347307/endothelial-cells-and-macrophages-as-allies-in-the-healthy-and-diseased-brain
#10
REVIEW
Adam Denes, Cathrin E Hansen, Uemit Oezorhan, Sara Figuerola, Helga E de Vries, Lydia Sorokin, Anna M Planas, Britta Engelhardt, Markus Schwaninger
Diseases of the central nervous system (CNS) are often associated with vascular disturbances or inflammation and frequently both. Consequently, endothelial cells and macrophages are key cellular players that mediate pathology in many CNS diseases. Macrophages in the brain consist of the CNS-associated macrophages (CAMs) [also referred to as border-associated macrophages (BAMs)] and microglia, both of which are close neighbours or even form direct contacts with endothelial cells in microvessels. Recent progress has revealed that different macrophage populations in the CNS and a subset of brain endothelial cells are derived from the same erythromyeloid progenitor cells...
February 12, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38347288/the-contribution-of-%C3%AE-amyloid-tau-and-%C3%AE-synuclein-to-blood-brain-barrier-damage-in-neurodegenerative-disorders
#11
REVIEW
Ying-Chieh Wu, Tizibt Ashine Bogale, Jari Koistinaho, Marina Pizzi, Taisia Rolova, Arianna Bellucci
Central nervous system (CNS) accumulation of fibrillary deposits made of Amyloid β (Aβ), hyperphosphorylated Tau or α-synuclein (α-syn), present either alone or in the form of mixed pathology, characterizes the most common neurodegenerative diseases (NDDs) as well as the aging brain. Compelling evidence supports that acute neurological disorders, such as traumatic brain injury (TBI) and stroke, are also accompanied by increased deposition of toxic Aβ, Tau and α-syn species...
February 12, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38347231/the-niche-matters-origin-function-and-fate-of-cns-associated-macrophages-during-health-and-disease
#12
REVIEW
Adrià Dalmau Gasull, Martina Glavan, Sai K Reddy Samawar, Kishan Kapupara, Joe Kelk, Marina Rubio, Stefano Fumagalli, Lydia Sorokin, Denis Vivien, Marco Prinz
There are several cellular and acellular structural barriers associated with the brain interfaces, which include the dura, the leptomeninges, the perivascular space and the choroid plexus epithelium. Each structure is enriched by distinct myeloid populations, which mainly originate from erythromyeloid precursors (EMP) in the embryonic yolk sac and seed the CNS during embryogenesis. However, depending on the precise microanatomical environment, resident myeloid cells differ in their marker profile, turnover and the extent to which they can be replenished by blood-derived cells...
February 12, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38347168/macrophages-and-endothelial-cells-in-the-neurovascular-unit
#13
EDITORIAL
Jan Wenzel, Markus Schwaninger
No abstract text is available yet for this article.
February 12, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38340193/reply-pineal-parenchymal-tumors-of-intermediate-differentiation-in-need-of-a-stringent-definition-to-avoid-confusion
#14
JOURNAL ARTICLE
Ramin Rahmanzade, Felix Sahm
No abstract text is available yet for this article.
February 10, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38340187/pineal-parenchymal-tumors-of-intermediate-differentiation-in-need-of-a-stringent-definition-to-avoid-confusion-scientific-commentary-on-genetical-and-epigenetical-profiling-identifies-two-subgroups-of-pineal-parenchymal-tumors-of-intermediate-differentiation
#15
JOURNAL ARTICLE
https://read.qxmd.com/read/38326582/-ryr1-and-the-cerebellum-scientific-commentary-on-defective-cerebellar-ryanodine-receptor-type-1-and-endoplasmic-reticulum-calcium-leak-in-tremor-pathophysiology
#16
JOURNAL ARTICLE
Heinz Jungbluth, Dennis T Famili, Rick C Helmich, Stefano Previtali, Nicol C Voermans
No abstract text is available yet for this article.
February 7, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38319380/transmembrane-protein-97-is-a-potential-synaptic-amyloid-beta-receptor-in-human-alzheimer-s-disease
#17
JOURNAL ARTICLE
Martí Colom-Cadena, Jamie Toombs, Elizabeth Simzer, Kristjan Holt, Robert McGeachan, Jane Tulloch, Rosemary J Jackson, James H Catterson, Maxwell P Spires-Jones, Jamie Rose, Lora Waybright, Anthony O Caggiano, Declan King, Francesco Gobbo, Caitlin Davies, Monique Hooley, Sophie Dunnett, Robert Tempelaar, Soraya Meftah, Makis Tzioras, Mary E Hamby, Nicholas J Izzo, Susan M Catalano, Claire S Durrant, Colin Smith, Owen Dando, Tara L Spires-Jones
Synapse loss correlates with cognitive decline in Alzheimer's disease, and soluble oligomeric amyloid beta (Aβ) is implicated in synaptic dysfunction and loss. An important knowledge gap is the lack of understanding of how Aβ leads to synapse degeneration. In particular, there has been difficulty in determining whether there is a synaptic receptor that binds Aβ and mediates toxicity. While many candidates have been observed in model systems, their relevance to human AD brain remains unknown...
February 6, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38310187/new-insights-into-neuropathology-and-pathogenesis-of-autoimmune-glial-fibrillary-acidic-protein-meningoencephalomyelitis
#18
JOURNAL ARTICLE
Yong Guo, Verena Endmayr, Anastasia Zekeridou, Andrew McKeon, Frank Leypoldt, Katharina Hess, Alicja Kalinowska-Lyszczarz, Andrea Klang, Akos Pakozdy, Elisabeth Höftberger, Simon Hametner, Carmen Haider, Désirée De Simoni, Sönke Peters, Ellen Gelpi, Christoph Röcken, Stefan Oberndorfer, Hans Lassmann, Claudia F Lucchinetti, Romana Höftberger
Anti-glial fibrillary acidic protein (GFAP) meningoencephalomyelitis (autoimmune GFAP astrocytopathy) is a new autoimmune central nervous system (CNS) disease diagnosable by the presence of anti-GFAP autoantibodies in the cerebrospinal fluid and presents as meningoencephalomyelitis in the majority of patients. Only few neuropathological reports are available and little is known about the pathogenic mechanisms. We performed a histopathological study of two autopsies and nine CNS biopsies of patients with anti-GFAP autoantibodies and found predominantly a lymphocytic and in one autopsy case a granulomatous inflammatory phenotype...
February 3, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38308717/scientific-commentary-on-phosphorylated-tau-in-the-retina-correlates-with-tau-pathology-in-the-brain-in-alzheimer-s-disease-and-primary-tauopathies
#19
JOURNAL ARTICLE
Frederike C Oertel, Daniel Casillas, Yann Cobigo, Shivany Condor Montes, Hilary W Heuer, Makenna Chapman, Alexandra Beaudry-Richard, Henriette Reinsberg, Ahmed Abdelhak, Christian Cordano, Bradley F Boeve, Bradford C Dickerson, Murray Grossman, Edward Huey, David J Irwin, Irene Litvan, Alexander Pantelyat, M Carmela Tartaglia, Lawren Vandevrede, Adam Boxer, Ari J Green
No abstract text is available yet for this article.
February 3, 2024: Acta Neuropathologica
https://read.qxmd.com/read/38308693/cryptic-exon-inclusion-is-a-molecular-signature-of%C3%A2-late-nc%C3%A2-in-aging-brains
#20
JOURNAL ARTICLE
Mingee Chung, E Kathleen Carter, Austin M Veire, Eric B Dammer, Jianjun Chang, Duc M Duong, Nisha Raj, Gary J Bassell, Jonathan D Glass, Tania F Gendron, Peter T Nelson, Allan I Levey, Nicholas T Seyfried, Zachary T McEachin
The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks of several neurodegenerative diseases and provide a defining criterion for the neuropathologic diagnosis of Limbic-predominant Age-related TDP-43 Encephalopathy (LATE). LATE neuropathologic changes (LATE-NC) are often comorbid with other neurodegenerative pathologies including Alzheimer's disease neuropathologic changes (ADNC). We examined whether TDP-43 regulated cryptic exons accumulate in the hippocampus of neuropathologically confirmed LATE-NC cases...
February 3, 2024: Acta Neuropathologica
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