Publications by authors named "Julian Gerhards"
Significance Statement: G protein-coupled receptor kinase 4 (GRK4) regulates renal sodium and water reabsorption. Although GRK4 variants with elevated kinase activity have been associated with salt-sensitive or essential hypertension, this association has been inconsistent among different study populations. In addition, studies elucidating how GRK4 may modulate cellular signaling are sparse.
View Article and Find Full Text PDFAdenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients have normal serum purine nucleotide levels but exhibit accumulation of dephosphorylated ADSL substrates, S-Ado, and SAICAr, the latter being implicated in neurotoxic effects through unknown mechanisms.
View Article and Find Full Text PDFIn Brassicaceae, tissue damage triggers the mustard oil bomb i.e., activates the degradation of glucosinolates by myrosinases leading to a rapid accumulation of isothiocyanates at the site of damage.
View Article and Find Full Text PDFArticle Synopsis
- Meier-Gorlin syndrome (MGS) is a rare genetic disorder characterized by microcephalic dwarfism due to mutations in the origin recognition complex (ORC), particularly ORC1-6, which is crucial for DNA replication and cilia function.
- Research using zebrafish models showed that the absence of ORC1 leads to severe defects in cilia formation, resulting in issues like edema, kidney cysts, and problems with left-right body symmetry.
- The findings suggest that components of the ORC not only play a role in DNA replication but also in regulating cilia development, indicating that cilia dysfunction may be linked to the clinical features of MGS.