A5028126256- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Biochemical and Molecular Research
- Genetic and Kidney Cyst Diseases
- Folate and B Vitamins Research
- Diabetes Treatment and Management
- Ion Transport and Channel Regulation
- Nitrogen and Sulfur Effects on Brassica
- Receptor Mechanisms and Signaling
- Cytomegalovirus and herpesvirus research
- Gastroesophageal reflux and treatments
- Renal and related cancers
- Glutathione Transferases and Polymorphisms
- Pancreatic function and diabetes
- Hedgehog Signaling Pathway Studies
- Biotin and Related Studies
- Biochemical Analysis and Sensing Techniques
- Adenosine and Purinergic Signaling
- Genomics, phytochemicals, and oxidative stress
University of Tübingen
2020-2024
Universität Ulm
2019-2020
University of Würzburg
2020
Adenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the nucleotide cycle. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly autism spectrum disorder. ADSLD patients have normal serum levels but exhibit accumulation of dephosphorylated substrates, S-Ado, SAICAr, latter being implicated neurotoxic effects through unknown mechanisms. We examined phenotypic depletion human cells their relation to outcomes. Using specific...
Significance Statement G protein–coupled receptor kinase 4 (GRK4) regulates renal sodium and water reabsorption. Although GRK4 variants with elevated activity have been associated salt-sensitive or essential hypertension, this association has inconsistent among different study populations. In addition, studies elucidating how may modulate cellular signaling are sparse. an analysis of affects the developing kidney, authors found that modulates mammalian target rapamycin (mTOR) signaling. Loss...
In Brassicaceae, tissue damage triggers the mustard oil bomb i.e. activates degradation of glucosinolates by myrosinases leading to a rapid accumulation isothiocyanates at site damage. Isothiocyanates are reactive electrophilic species (RES) that covalently bind thiols in proteins and glutathione, process is not only toxic herbivores microbes but can also cause cell death healthy plant tissues. Subtoxic isothiocyanate concentrations, likely occurring vicinity disrupted tissue, induce...
Abstract Adenylosuccinate Lyase (ADSL) functions in the de novo purine biosynthesis pathway. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients have normal nucleotide levels but exhibit accumulation of dephosphorylated substrates SAICAr S-Ado. was implicated neurotoxic effects ADSLD, although its role remains unknown. We examined depletion human cells found increased DNA damage signaling, that rescued by...
Adenylosuccinate Lyase (ADSL) functions in the de novo purine biosynthesis pathway. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients have normal nucleotide levels but exhibit accumulation of dephosphorylated substrates SAICAr S-Ado. was implicated neurotoxic effects ADSLD, although its role remains unknown. We examined depletion human cells found increased DNA damage signaling, that rescued by...