Validation and Optimization of a Stable Isotope-Labeled Substrate Assay for Measuring AGAT Activity.

L-arginine: glycine amidinotransferase (AGAT) gained academic interest as the rate-limiting enzyme in creatine biosynthesis and its role in the regulation of creatine homeostasis. Of clinical relevance is the diagnosis of patients with AGAT deficiency but also the potential role of AGAT as therapeutic target for the treatment of another creatine deficiency syndrome, guanidinoacetate N-methyltransferase (GAMT) deficiency. Applying a stable isotope-labeled substrate method, we utilized ARG 15N (ARG-δ2) and GLY 13C15N (GLY-δ3) to determine the rate of 1,2-13C,15N guanidinoacetate (GAA-δ5) formation to assess AGAT activity in various mouse tissue samples and human-derived cells.

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.

Purpose: Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of variants do not sufficiently distinguish benign from pathogenic variants. Additionally, ongoing discussions of reproductive carrier screening for diseases such as ARG1 creates a need for improved understanding of variant classification.

Ultrafiltration and composite microfiltration biocatalytic membrane activity and steroid hormone micropollutant degradation at environmentally relevant concentrations.

Biocatalytic degradation of micropollutants has been extensively explored in both batch and membrane reactors in µg/L to mg/L concentrations and variable water compositions. The degradation of micropollutants by biocatalytic membranes at environmentally relevant concentrations of ng/L range found in natural surface water matrices has not yet been investigated, presumably because of the challenging concentration analysis. This study investigated the limitations of biocatalytic degradation of estradiol (E2) micropollutant at environmentally relevant concentrations by a biocatalytic membrane.

You say it's not me: the influence of offering external explanations of rejection and acceptance behavior on the perception of benevolence in borderline personality disorder.

Background: Interpersonal impairments in patients diagnosed with borderline personality disorder (BPD) are characterized by the fear of being rejected and high levels of loneliness. Potential underlying factors are alterations in the processing of social interactions and the associated perceptions of social partners. In this regard, BPD patients tend to attribute the cause of negative rather than positive events to their own person and to perceive others as less trustworthy than healthy controls (HCs).