A5113713492- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Hormonal Regulation and Hypertension
- Carbohydrate Chemistry and Synthesis
- Renin-Angiotensin System Studies
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Biomedical Research and Pathophysiology
- Genetic Associations and Epidemiology
- Blood Pressure and Hypertension Studies
- Studies on Chitinases and Chitosanases
- Apelin-related biomedical research
- Sodium Intake and Health
- Electrolyte and hormonal disorders
- Glycosylation and Glycoproteins Research
- Birth, Development, and Health
- Biochemical and Molecular Research
- Complement system in diseases
- Renal Diseases and Glomerulopathies
- Ion Transport and Channel Regulation
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Receptor Mechanisms and Signaling
- Microbial Metabolic Engineering and Bioproduction
- Blood Coagulation and Thrombosis Mechanisms
- Child Nutrition and Feeding Issues
University Hospital Münster
2016-2025
Hypertension Institute
2018-2023
Technische Universität Berlin
2012-2018
University Medical Center of the Johannes Gutenberg University Mainz
2015
Johannes Gutenberg University Mainz
2015
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2014
IRCCS Humanitas Research Hospital
2014
University of Ioannina
2014
Policlinico San Matteo Fondazione
2014
Istituti di Ricovero e Cura a Carattere Scientifico
2014
Background The genes encoding angiotensin converting enzyme (ACE, I/D), α-adducin (ADD, Gly460Trp) and aldosterone synthase (AS, − 344C/T) share the potential of influencing blood pressure (BP) via sodium homeostasis. However, most studies in humans focused on single-gene effects disregarded epistasis, suppression or potentiation a gene by other non-allelic genes. Methods We studied singular combined aforementioned candidate genes: (1) relation to BP, plasma renin activity (PRA) urinary 1461...
Anomalies in either of the tightly linked genes encoding enzymes CYP11B1 (11beta-hydroxylase) or CYP11B2 (aldosterone synthase) can lead to important changes arterial pressure and are responsible for several monogenically inherited forms hypertension. Mutations these their regulatory regions could thus contribute genetic variation susceptibility essential To test this hypothesis, we performed 2 complementary studies CYP11B1/CYP11B2 locus After characterizing a DNA contig containing gene...
Abstract —The renin-angiotensin-aldosterone system plays an important role in blood pressure regulation by influencing salt-water homeostasis and vascular tone. The purpose of the present study was to search for associations single nucleotide polymorphisms on 3 major candidate genes this with plasma concentrations corresponding components considered as quantitative phenotypes. Genotyping performed 114 normotensive subjects different variants angiotensinogen ( AGT ) gene (C-532T, G-6A,...
Endothelial dysfunction contributes to the increased cardiovascular risk that accompanies CKD. We hypothesized soluble VEGF receptor 1 (sFlt-1), a antagonist, plays role in endothelial and decreased angiogenesis enrolled 130 patients with CKD stages 3 5 56 age- gender-matched control patients. Plasma sFlt-1 levels were higher and, after multivariate regression analyses, exclusively associated renal function of vWF, marker dysfunction. Compared serum from patients, both recombinant had...
Fabry disease (FD) is a progressive multisystemic disorder, treatable with recombinant enzyme replacement therapy (agalsidase). However, recent studies suggest an endogenous inhibition of agalsidase in patients FD, as reported for other lysosomal storage diseases. To assess the clinical consequences serum-mediated affected patients, we determined status 168 (68 male) FD and compared outcomes inhibition-positive those inhibition-negative patients. The assessment included events during time on...
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac of Fabry disease.
Defective α-galactosidase A (AGAL/GLA) due to missense or nonsense mutations in the GLA gene results accumulation of glycosphingolipids globotriaosylceramide (Gb3) and its deacylated derivate globotriaosylsphingosine (lyso-Gb3) cells body fluids. The aberrant glycosphingolipid metabolism leads a progressive lysosomal storage disorder, i. e. Fabry disease (FD), characterized by chronic inflammation leading multiorgan damage. Enzyme replacement therapy (ERT) with agalsidase-alfa -beta is one...
The aim of our multicenter study was to investigate the safety and efficacy enzyme replacement therapy (ERT) chaperone on disease progression in female Fabry (FD) patients compare individual treatment regimens. Data from 3 consecutive visits 102 FD 6 centers were retrospectively analyzed. According their FD-specific treatment, separated 5 groups: Newly agalsidase-beta- [n = 18], agalsidase-alfa- 29] migalastat-[n 14] treated patients, long-term 7] agalsidase-alfa-[n 34] patients. Clinical...
Abstract —The matrix Gla protein (MGP) is an important inhibitor of vessel and cartilage calcification that strongly expressed in human calcified, atherosclerotic plaques could modulate plaque coronary heart disease risk. Using a genetic approach, we explored this possibility by identifying polymorphisms the MGP gene testing their possible association with myocardial infarction (MI) calcification. Eight were identified coding 5′-flanking sequences gene. All investigated 607 patients MI 667...
The common single-nucleotide polymorphism (SNP) brain-derived neurotrophic factor (BDNF) valine-to-methionine substitution at codon 66 (Val66Met) has been associated with differences in memory functions and cortical plasticity following brain stimulation. Other studies could not confirm these results, though, potential interactions of BDNF carrier status other learning-relevant SNPs are largely unknown. present study aimed to evaluate the effects Val66Met genotype on paired associative...
Elevation of C-reactive protein (CRP) in human blood accompanies inflammatory processes, including cardiovascular diseases. There is increasing evidence that the acute-phase reactant CRP not only a passive marker for systemic inflammation but also affects vascular system. Further, an independent risk factor atherosclerosis and development hypertension. Another crucial player atherosclerotic processes mineralocorticoid hormone aldosterone. Even low physiological concentrations, it stimulates...
Aldosterone triggers the stiff endothelial cell syndrome (SECS), characterized by an up-regulation of epithelial sodium channels (ENaCs) and mechanical stiffening cortex accompanied dysfunction. In vivo, aldosterone antagonism exerts sustained protection on cardiovascular system. To illuminate molecular mechanisms this time-dependent effect, a study cells in vitro ex vivo was designed to investigate SECS over time. Endothelia (from human umbilical veins, bovine aortae, explants arteries)...
Background Use of enzyme replacement therapy (ERT) to treat Fabry disease, caused by deficient lysosomal α -galactosidase A activity, can lead formation neutralizing antidrug antibodies (ADAs). These are associated with increased accumulation plasma globotriaosylceramide (Gb3) and disease progression. Because agalsidase ERT saturate ADA-binding sites during infusions (achieving agalsidase/antibody equilibrium), we investigated in this open cohort study whether saturated patients (who have...
Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of enzyme α-galactosidase A (α-Gal A) leading to intracellular accumulation globotriaosylceramide (Gb3). Patients with amenable mutations can be treated migalastat, a recently approved oral pharmacologic chaperone increase endogenous α-Gal activity. We assessed safety along cardiovascular, renal, and patient-reported outcomes biomarkers in prospective observational multicenter study after 12...
Fabry Disease (FD) is a rare, X-linked, lysosomal storage disease that mainly causes renal, cardiac and cerebral complications. Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A available, but approximately 50% of male patients classical FD develop inhibiting anti-drug antibodies (iADAs) lead to reduced biochemical responses an accelerated loss renal function. Once immunization has occurred, iADAs tend persist tolerization hard achieve. Here we developed pre-treatment...
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA/AGAL) resulting in accumulation globotriaosylceramide (Gb3). Patients with amenable GLA mutations can be treated migalastat, oral pharmacologic chaperone increasing endogenous AGAL activity. In this prospective observational multicenter study safety as well cardiovascular, renal, and patient-reported outcomes biomarkers were assessed after 12 24 months migalastat treatment...
This study evaluated the impact of a music program designed to foster cognitive development and social esteem among high-risk elementary school children. Addressing central question how education may help children develop general learning skills, research design interconnected between three components: (1) content lessons; (2) interactive, educational frameworks (mediated environments); (3) specific skills be fostered during lessons. All participants ( N = 81) attended Jaffa Institute...
Because of the shortage agalsidase-beta in 2009, many patients with Fabry disease were treated lower doses or switched to agalsidase-alfa. This observational study assessed end-organ damage and clinical symptoms during dose reduction switch A total 105 adult who had received (1.0 mg/kg body weight) for ≥1 year nonrandomly assigned continue this treatment regimen (regular-dose group, n=38), receive a reduced 0.3–0.5 (dose-reduction n=29), 0.2 agalsidase-alfa (switch group) followed...