A5090663384- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Studies on Chitinases and Chitosanases
- Cellular transport and secretion
- Glycosylation and Glycoproteins Research
- Nuclear Receptors and Signaling
- Sphingolipid Metabolism and Signaling
- Neurological diseases and metabolism
- Mosquito-borne diseases and control
- Genetic Neurodegenerative Diseases
- Carbohydrate Chemistry and Synthesis
- CRISPR and Genetic Engineering
- Genetics and Neurodevelopmental Disorders
- COVID-19 diagnosis using AI
- SARS-CoV-2 and COVID-19 Research
- Neurological disorders and treatments
- RNA regulation and disease
- SARS-CoV-2 detection and testing
- Trypanosoma species research and implications
- Autism Spectrum Disorder Research
- Biomedical Research and Pathophysiology
Centogene (Germany)
2020-2024
Estimates of the spectrum and frequency pathogenic variants in Parkinson's disease (PD) different populations are currently limited biased. Furthermore, although therapeutic modification several genetic targets has reached clinical trial stage, a major obstacle conducting these trials is that PD patients largely unaware their status and, therefore, cannot be recruited. Expanding number investigated PD-related genes including related to disorders with overlapping features large,...
Genetic stratification of Parkinson's disease (PD) patients facilitates gene-tailored research studies and clinical trials. The objective this study was to describe the design initial data from Rostock International Disease (ROPAD) study, an epidemiological observational aiming genetically characterize ~10,000 participants.Recruitment criteria included (1) diagnosis PD, (2) relative participant with a reportable LRRK2 variant, or (3) North African Berber Ashkenazi Jew. DNA analysis involved...
The Coronavirus disease 2019 (COVID-19) pandemic caused by the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) has resulted in economic and social lockdowns most countries all over globe. Early identification of infected individuals is regarded as one important prerequisites for fighting returning to a ‘New Normal’. Large-scale testing therefore crucial, but facing several challenges including shortage sample collection tools molecular biological reagents, need safe electronic...
The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).
Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation sphingolipid glucosylsphingosine (lyso-Gb1). The international, multicenter, observational “Lyso-Gb1 as Long-term Prognostic Biomarker Disease”—LYSO-PROOF study succeeded enrolling cohort 160 treatment-naïve GD patients diverse geographic regions and evaluated potential lyso-Gb1 specific...
Gaucher disease is a rare inherited disorder caused by deficiency of the lysosomal acid beta-glucocerebrosidase enzyme. Metabolomic studies our group targeted several new potential urinary biomarkers. Apart from lyso-Gb1, these highlighted lyso-Gb1 analogs -28, -26, -12 (A/B), +2, +14, +16 +30, and +32 Da, polycyclic 362, 366, 390, 394 Da. The main objective current study was to develop validate robust UPLC-MS/MS method urine distribution biomarkers in patients.Urine samples were purified...
Gaucher disease (GD) is a lysosomal storage disorder resulting from biallelic mutation in the gene GBA1, leading to deficiencies enzyme β-glucocerebrosidase (Gcase). Inabilities of Gcase catabolize its substrate result accumulation sphingolipids macrophages, which impairs cell functions and ultimately leads multisystemic clinical manifestations. Important variability symptoms manifestations may lead challenging diagnosis patient care. Plasma glucosylsphingosine (lyso-Gb1) biomarker...
Background: Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting neurotoxicity severe systemic manifestations. Methods & results: Urine samples from controls patients were purified solid-phase extraction prior the analysis ultra-high-performance liquid chromatography (UPLC) combined with MS/MS. A UPLC-MS/MS method for 21 urinary creatinine-normalized biomarkers eight diseases was developed...
Aim: Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme acid β-glucocerebrosidase. Recent metabolomic studies highlighted several new metabolites increased in plasma GD patients. We aimed to develop and validate UPLC–MS/MS method allowing relative quantitation lyso-Gb1 analogs -28, -12, -2, +14, +16 +18 Da addition sphingosylphosphorylcholine, N-palmitoyl-O-phosphocholine study potential correlations with clinical manifestations. Methodology & results: Following...