Annexin A11 Aggregation in FTLD-TDP Type C and Related Neurodegenerative Disease Proteinopathies

Study on Annexin A11 Aggregation and TDP-43 Proteinopathies in Neurodegenerative Diseases In this research report published in Acta Neuropathologica, researchers led by John L. Robinson from the University of Pennsylvania investigate the aggregation phenomena of Annexin A11 in neurodegenerative diseases, particularly in FTLD-TDP Type C, which is as...

Clinically Unfavorable Transcriptome Subtypes of Non-WNT/Non-SHH Medulloblastomas are Associated with a Predominance in Proliferating and Progenitor-Like Cell Subpopulations

Association of Adverse Transcriptomic Subtypes of Non-WNT/Non-SHH Medulloblastoma with the Dominance of Proliferative and Progenitor-like Subpopulations Research Background Medulloblastoma (MB) is one of the most common malignant tumors of the central nervous system in children. Based on molecular characteristics, the medical community typically cl...

Alteration of Gene Expression and Protein Solubility of the PI5-Phosphatase SHIP2 are Correlated with Alzheimer’s Disease Pathology Progression

Changes in Gene Expression and Protein Insolubility in Alzheimer’s Disease Progression Background Introduction As the most common type of dementia, Alzheimer’s Disease (AD) is well-known for its two main neuropathological features: amyloid plaques and neurofibrillary tangles (NFTs). Amyloid plaques consist of β-amyloid (Aβ) peptide segments generat...

Early and Selective Localization of Tau Filaments to Glutamatergic Subcellular Domains within the Human Anterodorsal Thalamus

Background The main purpose of this study is to investigate the distribution and diffusion patterns of tau protein in the early stages of Alzheimer’s disease, with a particular focus on the vulnerability of calretinin-positive neurons in the anterodorsal thalamic nucleus of the human subcortical region and the accumulation of tau pathology protein ...

Abundant Transcriptomic Alterations in the Human Cerebellum of Patients with a C9orf72 Repeat Expansion

Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...

Seeding Activity of Human Superoxide Dismutase 1 Aggregates in Familial and Sporadic Amyotrophic Lateral Sclerosis Postmortem Neural Tissues by Real-Time Quaking-Induced Conversion

Detection of Seeding Activity of Human Superoxide Dismutase 1 Aggregates in Postmortem Neural Tissues of Familial and Sporadic Amyotrophic Lateral Sclerosis Patients Background Introduction Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressing neurodegenerative disease with an average survival time of 2 to 5 years after diagnosis. Major symp...

Inter-alpha-trypsin inhibitor heavy chain h3 is a potential biomarker for disease activity in myasthenia gravis

Research Background Myasthenia Gravis (MG) is a chronic antibody-mediated autoimmune disease that primarily affects synaptic transmission at the neuromuscular junction. Approximately 85% of MG patients are antibody-mediated targeting acetylcholine receptors (AChR). The clinical features of this disease include muscle weakness, especially fatigue-in...

Characterization of NEB Pathogenic Variants in Patients Reveals Novel Nemaline Myopathy Disease Mechanisms and Omecamtiv Mecarbil Force Effects

Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...

BTK Inhibition Limits Microglia-Perpetuated CNS Inflammation and Promotes Myelin Repair

Research Report: Effect of Bruton Tyrosine Kinase Inhibitor Evobrutinib on Myelin Repair and CNS Inflammation in Multiple Sclerosis Background Introduction Multiple Sclerosis (MS) is a demyelinating disease of the Central Nervous System (CNS) where the myelin sheath of patients is damaged by inflammation. Traditionally, MS is considered to be prima...

Stage-dependent immunity orchestrates AQP4 antibody-guided NMOSD pathology: A role for netting neutrophils with resident memory T cells in situ

Stage-Dependent Immune Responses Mediated by AQP4 Antibodies in NMOSD Pathology in the Central Nervous System Academic Background Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune diseases of the central nervous system (CNS), characterized by the production of specific antibodies against the water channel protein Aquaporin-4 (AQP4). Al...