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Acta Neuropathologica Communications
Scopus
ISSN 2051-5960 · BMC · 1.929 artikel di indeks
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Artikel Jurnal
APOE genotype differentially modulates prion pathology in a mouse model
Abstract APOE polymorphism affects the risk of occurrence and the rate of progression in several neurodegenerative diseases including Alzheimer’s disease, primary tauopathies, α-synucleinopathy, and age-related macular degeneration, but its role in prionoses remains unestablished. Using APOE…
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Artikel Jurnal
Advancing prion diagnostics: full-length human E200K RT-QuIC substrate facilitates prion detection in tear fluid and improves sensitivity in cerebrospinal fluid
Abstract The real-time quaking-induced conversion (RT-QuIC) assay has revolutionized prion disease diagnosis by detecting amyloidogenic PrP conformers in different tissue types and body fluids. Recently, we achieved a breakthrough by detecting amyloidogenic PrP conformers in tear fluid (TF), a…
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Artikel Jurnal
Clinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications
Abstract Glioblastoma (GBM) is a relatively rare manifestation of Lynch syndrome (LS), and its defining characteristics are not yet fully defined. This study employs an integrated analysis of the clinicopathological, molecular, and tumor immune microenvironment features of LS-GBMs to elucidate its…
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Artikel Jurnal
Basement membrane remodeling with fibroblast activation and cystatin C aggregation in cerebral vessels of hereditary cystatin C amyloid angiopathy
Abstract Hereditary cystatin C amyloid angiopathy (HCCAA) is a familial form of cerebral amyloid angiopathy (CAA), a progressive disease that causes recurrent, often severe intracerebral hemorrhages and premature death in young adults. It is caused by a mutation in the CST3 gene that results in…
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Artikel Jurnal
Deficiency of SMARCB1 drives an immunosuppressive microenvironment in meningioma
Abstract Background Meningiomas are the most common primary intracranial tumor in adults and systemic therapy is urgently needed for high-grade fatal tumors and those cannot be completely removed by surgery. Multiomics studies have established a molecular classification system in addition to the…
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Artikel Jurnal
Two pediatric supratentorial ependymal tumors with novel PLAG1 fusions
Abstract The 2021 World Health Organization (WHO) Classification of Central Nervous System (CNS) classification formalized routine molecular profiling, and DNA-methylation studies have since delineated PLAG-family–altered CNS entities: PLAGL1 fusion–positive supratentorial neuroepithelial tumors…
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Artikel Jurnal
Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients
Abstract Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is a neuromuscular disorder caused by mutations in the LAMA2 gene, coding for the α2 subunit of laminin-211 (merosin). LAMA2 mutations leading to complete laminin-211 absence result in a severe clinical phenotype with profound…
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Artikel Jurnal
Co-aggregation of annexin A11 and TDP-43 in FTLD/MND with primary lateral sclerosis phenotype
Abstract TDP-43 proteinopathies, such as frontotemporal degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), are classified into five neuropathological subtypes, Types A to E, according to the morphology of TDP-43 inclusions. Recent cryo-electron microscopy analysis of FTLD-TDP cases…
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Artikel Jurnal
Dual targeting of iNOS and Src tyrosine kinase as a superior therapeutic strategy against soman-induced long-term neurotoxicity: multimodal biomarker, imaging, and neurobehavioral outcome analyses
Abstract Acute exposure to the organophosphate nerve agent (OPNA) soman (GD) triggers severe and persistent brain injury characterized by seizures, oxidative stress, and structural and functional network alterations, collectively described as the brain’s “SOS” response, despite timely…
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Artikel Jurnal
Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report
Abstract Polymorphous low-grade neuroepithelial tumors of the young (PLNTY) are slow- or non-progressing epileptogenic tumors, typically occurring in young adults. These tumors are highly calcified and exhibit both diffuse growth and oligodendroglioma-like patterns. Epithelioid glioblastomas (E-GB)…
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Artikel Jurnal
Mapping the secondary response to traumatic brain injury using spatial transcriptomics shows acute 4-aminopyridine treatment mitigates axonal and molecular pathology
Abstract Damage to long myelinated axons of white matter tracts is a hallmark pathology resulting from traumatic brain injury (TBI) forces and secondary injury processes. 4-aminopyridine (4-AP) is an FDA-approved Kv1 potassium channel inhibitor designed to mitigate axon dysfunction. We examined…
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Artikel Jurnal
Novel insights into meningioma brain invasion with spatial transcriptomic profiling
Abstract Brain invasion of meningioma is a controversial clinicopathological grading criterion that correlates with prognosis and is a stand-alone criterion for WHO grade 2 meningioma. Molecular correlates of meningioma cells and immune cell infiltration at the brain-meningioma border and its…
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Artikel Jurnal
Calcineurin depletion coincides with phosphorylated TDP-43 deposition in a mouse model of ALS/FTLD-TDP
Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP) exhibit predominantly cytoplasmic phosphorylated inclusions of the protein TDP-43 as the major neuropathological lesion. Phosphorylated TDP-43 can modify protein aggregation and promote neuronal…
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Artikel Jurnal
Absence of Ledgf in mouse brain affects the Kmt2a/b and polycomb balance, synaptic transmission and motor function
Abstract Lens epithelium-derived growth factor (LEDGF), encoded by the Psip1 gene, exists in two splice variants, LEDGF/p75 and LEDGF/p52. Although little is known about its role in the brain, LEDGF has been proposed to play a role in neurogenesis. Since known LEDGF binding partners, such as PogZ…
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Artikel Jurnal
Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors
Abstract Background Assessing circulating cell-free DNA (cfDNA) in cerebrospinal fluid (CSF) has been proposed as a promising alternative to tissue biopsy. Advances in cfDNA sequencing have further underscored the potential of CSF liquid biopsies in the clinical setting. CSF is routinely collected…
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Artikel Jurnal
Mislocalization of FTD3-associated mutant CHMP2B to the nucleus of human neurons due to loss of a nuclear export signal
Abstract Frontotemporal dementia linked to chromosome 3 (FTD3) is caused by a splice site point mutation in CHMP2B, resulting in the production of mutant proteins CHMP2BIn5 and CHMP2BΔ10. Here, we found that wildtype CHMP2B (CHMP2BWT) is mostly present in the cytoplasm, but CHMP2BIn5 is…
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Artikel Jurnal
Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness
Abstract Transgenic mice overexpressing bank vole prion protein with the isoleucine 109 polymorphism, TgVole(I109)4x, develop spontaneous neurodegenerative disease with sex-dependent onset, averaging 170 days in females and 200 days in males at terminal stage. The clinical and pathological features…
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Artikel Jurnal
Brain and circulating EV proteome signatures in schizophrenia as prognostic markers for age-related dementia
Abstract Schizophrenia (SZ) is epidemiologically linked to an increased risk of developing age-related dementias (ARD) predominantly characterized by Alzheimer’s disease and vascular dementia. However, the molecular mechanisms underlying this association remain insufficiently elucidated…
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Artikel Jurnal
Spatiotemporal transcriptomic mapping reveals region-specific glial activation and astrocyte shifts in epileptogenesis beyond the hippocampus
Abstract Temporal lobe epilepsy (TLE) is a prevalent neurological disorder often preceded by an initial precipitating event, followed by a latent phase, and culminating in chronic epilepsy with recurrent seizures. The molecular and cellular mechanisms driving this transformation remain incompletely…
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