A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
Raman and Terahertz Spectroscopy of Low-Frequency Chiral Phonons in Amino Acids. [PDF]
Rao R +8 more
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Antipathogenic carbon dots synthesized from fluorescent amino acids and their photodynamic activity. [PDF]
Suner SS +3 more
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Targeted metabolomics of organic and amino acids in giraffe milk during mid- to late-lactation. [PDF]
Osthoff G, Mason S, Davoren E, Deacon F.
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Comprehensive Taste Profile Assessment of Underexplored Amino Acids and Protein Derivatives in Umami and Koku. [PDF]
López Martínez MI +5 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Genetic Incorporation of Diverse Noncanonical Amino Acids for Histidine Substitution. [PDF]
Natter Perdiguero A +4 more
europepmc +1 more source

