A5021199674- Metabolism and Genetic Disorders
- Cholesterol and Lipid Metabolism
- Diet and metabolism studies
- Metabolomics and Mass Spectrometry Studies
- Neuroscience and Neuropharmacology Research
- Parathyroid Disorders and Treatments
- Adipose Tissue and Metabolism
- Peroxisome Proliferator-Activated Receptors
- Renal function and acid-base balance
- Genetics and Neurodevelopmental Disorders
- Hormonal Regulation and Hypertension
- Lipoproteins and Cardiovascular Health
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cancer, Lipids, and Metabolism
- Ion channel regulation and function
- Metabolism, Diabetes, and Cancer
- Diabetes Treatment and Management
- Receptor Mechanisms and Signaling
- Ion Transport and Channel Regulation
- Cancer, Hypoxia, and Metabolism
- Neurological and metabolic disorders
- Biochemical Analysis and Sensing Techniques
- Vitamin K Research Studies
- Electrolyte and hormonal disorders
- Renin-Angiotensin System Studies
Washington State University Spokane
2016-2023
Amsterdam Neuroscience
2017-2020
Amsterdam University Medical Centers
2020
University of Amsterdam
2020
Vrije Universiteit Amsterdam
2020
Emma Kinderziekenhuis
2020
Harvard University
2020
Boston Children's Hospital
2020
Oregon Health & Science University
1998-2018
Amsterdam UMC Location Vrije Universiteit Amsterdam
2017
The recently identified transient receptor potential (TRP) channel family member, TRPV4 (formerly known as OTRPC4, VR-OAC, TRP12, and VRL-2) is activated by hypotonicity. It highly expressed in the kidney well blood-brain barrier-deficient hypothalamic nuclei responsible for systemic osmosensing. Apart from its gating hypotonicity, little about regulation. We observed that hypotonic stress resulted rapid tyrosine phosphorylation of a heterologous expression model native murine distal...
Background To determine whether familial transmission is shared between autism spectrum disorders and attention‐deficit/hyperactivity disorder, we assessed the prevalence, rates of comorbidity, both in a large population‐based sample children during recent 7 year period. Methods Study participants included all born to parents with Kaiser Permanente Northwest ( KPNW ) Health Plan 1 January 1998 31 December 2004 n = 35,073). Children mothers physician‐identified ASD and/or disorder ADHD were...
Numerous studies have explored the pathogenesis of cyclosporin A (CysA)-induced hypertension; however, none has assessed impact CysA treatment on resistance arteries in setting elevated blood pressure. Therefore, we studied chronic effect rat mesenteric artery vessels (ex vivo). (25 mg/kg per d for 7 d), but not vehicle, significantly raised systolic pressure (13.4 +/- 2.2 mmHg, P < 0.003, n = 9 group). The from CysA-treated rats showed a small significant decrease norepinephrine sensitivity...
Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma-amino butyric acid (GABA) and gamma hydroxybutyric (GHB) complex neuropsychiatric profile. Adult reports suggest worsening epilepsy high SUDEP risk.
The modulation of presynaptic voltage-dependent calcium channels by classical second messenger molecules such as protein kinase C and G βγ subunits is well established considered a key factor for the regulation neurotransmitter release. However, little known other endogenous mechanisms that control activity these channels. Here, we demonstrate unique N-type farnesol, dephosphorylated intermediate mammalian mevalonate pathway. At micromolar concentrations, farnesol acts relatively...
Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience family caregivers for children diagnosed with ZSD is not well understood. In this study, we sought to characterize emotional caregivers. Three 90-min focus groups were conducted thirty-seven parents (25 mothers 12 fathers) during a advocacy conference. Focus arranged by age proband (Group 1: 0–4 years, Group 2:...
Purpose: Vigabatrin (VGB) is an effective antiepileptic that increases concentrations of inhibitory γ-aminobutyric acid (GABA) by inhibiting GABA transaminase. Reports VGB-associated visual field loss limit its clinical usefulness, and retinal toxicity studies in laboratory animals have yielded conflicting results. Methods: We examined the functional morphologic effects VGB C57BL/6J mice received either or saline IP from 10 to 18 weeks age. Retinal structure function were assessed vivo...
To determine genotype-phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency.ALDH5A1 variants were studied with phenotype the SSADH natural history study. Assignment of gene variant pathogenicity was based on silico testing and vitro enzyme activity after site-directed mutagenesis expression HEK293 cells. Phenotypic scoring used a Clinical Severity Score (CSS) designed for study.Twenty-four patients enrolled (10 male, 14 female, median age 8.2 years). There 24...
Article Comparison of Several Atherogenicity Indices by the Analysis Serum Lipoprotein Composition in Patients with Chronic Renal Failure or without Haemodialysis, and Transplant was published on January 1, 1985 journal Clinical Chemistry Laboratory Medicine (CCLM) (volume 23, issue 12).
Smith-Lemli-Opitz syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes reduction of 7-dehydrocholesterol (7DHC) to cholesterol. Herein we show that dermal fibroblasts obtained from SLOS children display increased basal levels LC3B-II, hallmark protein signifying autophagy. The elevated LC3B-II accompanied beclin-1 cellular autophagosome content. We also concentration cells directly proportional 7DHC,...
Abstract —We recently demonstrated that farnesol, a 15-carbon isoprenoid, blocks L-type Ca 2+ channels in vascular smooth muscle cells. To elucidate farnesol′s mechanism of action, we performed whole-cell and perforated-patch clamp experiments rat aortic A7r5 cells Chinese hamster ovary (CHO) C9 expressing channel α 1C subunits. Farnesol dose-dependently voltage-independently inhibited Ba currents both CHOC9 cells, with similar half-maximal inhibitions at 2.6 4.3 mmol/L, respectively ( P...
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare neurometabolic disorder caused by disruption of the gamma-aminobutyric acid (GABA) pathway. A more detailed understanding its pathophysiology, beyond accumulation GABA and gamma-hydroxybutyric (GHB), will increase our disease may support novel therapy development. To this end, we compared biochemical body fluid profiles from SSADHD patients with controls using next-generation metabolic screening (NGMS). Targeted analysis NGMS...