A5065226777- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Calcium signaling and nucleotide metabolism
- Autoimmune and Inflammatory Disorders Research
- Carbohydrate Chemistry and Synthesis
- Genetic Associations and Epidemiology
- Cytomegalovirus and herpesvirus research
- Biochemical and Molecular Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Metabolism and Genetic Disorders
- Trypanosoma species research and implications
- Autism Spectrum Disorder Research
- Prenatal Screening and Diagnostics
- SARS-CoV-2 detection and testing
- Genetics and Physical Performance
- Infant Nutrition and Health
- HIV/AIDS drug development and treatment
- Adipose Tissue and Metabolism
- Biomedical Research and Pathophysiology
- Pneumocystis jirovecii pneumonia detection and treatment
- Skin and Cellular Biology Research
- COVID-19 epidemiological studies
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Cystic Fibrosis Research Advances
Charles University
2014-2024
General University Hospital in Prague
2014-2024
The genetic correlates of extreme impulsive violence are poorly understood, and there have been few studies that characterized a large group affected individuals both clinically genetically. We performed whole exome sequencing (WES) in 290 males with the life-course-persistent, extremely impulsively violent form antisocial personality disorder (APD) analyzed spectrum rare protein-truncating variants (rPTVs). Comparisons were made 314 male controls publicly available genotype data. Functional...
Monoallelic variants in the
Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder resulting from deficiency of iduronate-2-sulphatase activity. The disease manifests almost exclusively in males; only 16 symptomatic heterozygote girls have been reported so far. We describe the results X-chromosome inactivation analysis a 5-year-old girl with clinically severe and heterozygous mutation p.Arg468Gln IDS gene. X analysed at three loci showed extreme skewing (96/4 to 99/1) two patient's cell types....
Abstract The inability to predict the evolution of COVID-19 epidemic hampered abilities respond crisis effectively. cycle threshold (Ct) from standard SARS-CoV-2 quantitative reverse transcription-PCR (RT-qPCR) clinical assay is inversely proportional amount RNA in sample. We were interested see if population Ct values could future increases cases as well subgroups that would be more likely affected. This information have been extremely helpful early epidemic. therefore conducted a...
Abstract Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene encoding alpha‐galactosidase A (AGAL). The impact of X‐chromosome inactivation (XCI) on phenotype female FD patients remains unclear. In this study we aimed to determine pitfalls XCI testing a cohort 35 patients. was assessed two methylation‐based and allele‐specific expression assays. results correlated, although some variance among four assays observed. transcript analyses identified...
Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition thought to rarely affect women, and when it does, the clinical presentation mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis acute kidney failure due overproduction. Family history included mother with tophaceous gout end-stage disease...
Key Points The clinical significance of a number missense variants α -galactosidase A is often ambiguous. Defective proteostasis some induced chronic endoplasmic reticulum stress and the unfolded protein response. Endoplasmic response may explain manifestations non-classic Fabry disease. Background Classic disease caused by GLA mutations that result in loss enzymatic activity A, lysosomal storage globotriaosylceramide, resulting multisystemic In disease, patients have preserved milder...
The genetic correlates of extreme impulsive violence are poorly understood, and there have been no studies that systematically characterized a large group affected individuals both clinically genetically. We performed genome‐wide rare copy number variant (CNV) analysis in 281 males from four Czech prisons who met strict clinical criteria for violence. Inclusion included age ≥ 18 years, an ICD‐10 diagnosis Dissocial Personality Disorder, the absence organic brain disorder. Participants...
Abstract Background Classic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, patients have some preserved AGAL activity milder course, though female carriers may also be affected. While FD pathogenesis has been mostly attributed to catalytic mutated AGAL, impairment functions, other pathogenic factors important,...
Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or NPC2 gene. multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To evaluate impacts mutations, we examined fibroblast cultures 26 NP-C1 patients with clinical phenotypes ranging infantile to adult neurologic onset forms. The cells were tested multiple assays including mRNA expression levels and allele ratios, assessment promoter haplotypes,...
Recently, we have identified a recessive mutation, an abnormal coat appearance in the BXH6 strain, member of HXB/BXH set recombinant inbred (RI) strains. The RI strains were derived from spontaneously hypertensive rat (SHR) and Brown Norway (BN-Lx) progenitors. Whole genome sequencing mutant rats 195875980 G/A mutation tuftelin 1 (Tuft1) gene on chromosome 2, which resulted premature stop codon. Compared with wild-type rats, BXH6-Tuft1 exhibited lower body weight due to reduced visceral fat...
We present a simple method for enrichment of lysosomal membranes from HEK293 and HeLa cell lines taking advantage selective disruption lysosomes by methionine methyl ester. Organelle concentrate postnuclear supernatant was treated with 20 mmol/l ester 45 min to lyse the lysosomes. Subsequently, were resolved on step sucrose gradient. An enriched membrane fraction collected 20%/35% interface. The washed 30 times relative homogenate gave yield more than 8 %. These results are comparable...
Abstract Background:F Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or NPC2 gene. multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To evaluate impacts mutations, we examined fibroblast cultures 26 NP-C1 patients with clinical phenotypes ranging infantile to adult neurologic onset forms. The cells were tested multiple assays including mRNA expression levels and allele ratios, assessment...
Abstract Background: Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or NPC2 gene. multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To evaluate impacts mutations, we examined fibroblast cultures 26 NP-C1 patients with clinical phenotypes ranging infantile to adult neurologic onset forms. The cells were tested multiple assays including mRNA expression levels and allele ratios, assessment...