Complement and inflammasome crosstalk in chronic inflammation. [PDF]
Janžič L, Kouter K.
europepmc +1 more source
Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett +8 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Divergence of C4A and C4B in first-episode psychosis: Insights from CSF and plasma immune profiling. [PDF]
Arjmand S +9 more
europepmc +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Oxygen-dependent modulation of the human complement system during acute normobaric hypoxia: a translational plasma proteomics study. [PDF]
Lang A +16 more
europepmc +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Complement profiling for treatment outcomes in pulmonary TB. [PDF]
Pavan Kumar N +7 more
europepmc +1 more source
Impaired Phagocytosis in Peritonitis Exudate Secondary to Complement Consumption [PDF]
Billing, A. +3 more
core +1 more source
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich +19 more
wiley +1 more source

