Jasmin Bartl- Dr. rer nat
- Head of Laboratory at INI Research
Jasmin Bartl
- Dr. rer nat
- Head of Laboratory at INI Research
About
73
Publications
7,605
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1,254
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Introduction
Current institution
INI Research
Current position
- Head of Laboratory
Additional affiliations
January 2022 - present
INI Research gGmbH
Position
- Head of Laboratory
April 2011 - April 2012
August 2007 - December 2008
Publications
Publications (73)
Pilocytic astrocytoma (PA), the most common pediatric brain tumor, is driven by aberrant mitogen-activated protein kinase signaling most commonly caused by BRAF gene fusions or activating mutations. While 5-year overall survival rates exceed 95%, tumor recurrence or progression constitutes a major clinical challenge in incompletely resected tumors....
Background
While major advances have been made in improving the quality of life and survival of children with most forms of medulloblastoma (MB), those with MYC-driven tumors (Grp3-MB) still suffer significant morbidity and mortality. There is an urgent need to explore multimodal therapeutic regimens which are effective and safe for children. Large...
With growing molecular evidence for correlations between spatial arrangement of blood vasculature and fundamental immunological functions, carried out in distinct compartments of the subdivided lymph node, there is an urgent need for three-dimensional models that can link these aspects. We reconstructed such models at a 1.84 µm resolution by the me...
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant brain tumor in infants that is characterized by loss of nuclear expression of SMARCB1 or SMARCA4 proteins. Recent studies show that AT/RTs comprise three molecular subgroups, namely AT/RT-TYR, AT/RT-MYC and AT/RT-SHH. The subgroups show distinct expression patterns of genes involved in...
Most lncRNAs display species-specific expression patterns suggesting that animal models of cancer may only incompletely recapitulate the regulatory crosstalk between lncRNAs and oncogenic pathways in humans. Among these pathways, Sonic Hedgehog (SHH) signaling is aberrantly activated in several human cancer entities. We unravel that aberrant expres...
We confirmed the presence of wired antigen presenting cells (wAPC) in lymph nodes [1,2]. →We were able to identify Schwann cells in the hilum, medullary and capsule region of the lymph node (I). →We found oligodendrocyte-like cells in the lymph node regions mentioned above regions, myelinating more than one axon (II). →GFAP positive signals could b...
Background:
Intratumoral heterogeneity is crucially involved in metastasis, resistance to therapy and cancer relapse. Amplifications of the proto-oncogene MYC display notable heterogeneity at the single-cell level and are associated with a particularly dismal prognosis in high-risk medulloblastomas. The aim of this study was to establish the relev...
Glioblastoma is the most common malignant primary brain tumor. To date, clinically relevant biomarkers are restricted to isocitrate dehydrogenase (IDH) gene 1 or 2 mutations and O6-methylguanine DNA methyltransferase (MGMT) promoter methylation. Long non-coding RNAs (lncRNAs) have been shown to contribute to glioblastoma pathogenesis and could pote...
Introduction
Resistance to chemotherapy is a common cause of treatment failure in cancer patients and a major problem facing current cancer research. Targeted modulation of oncogenic signaling pathways may be used to systematically characterize drug resistance mechanisms across tumor entities and may help to identify new therapeutic strategies. Sin...
Subgroups of ependymoma, especially RELA fusion-positive and posterior fossa type A tumors, are associated with poor prognosis. Curative therapeutic strategies have not yet been identified. We set up a high-throughput drug screening (HTS) pipeline to evaluate clinically established compounds (n=196) in primary ependymoma cultures (n=12). As culturi...
Medulloblastoma (MB) is the most common malignant brain tumor in children and is frequently metastatic at diagnosis. Treatment with surgery, radiation and multi-agent chemotherapy may leave survivors of these brain tumors with long-term deficits as a consequence. One of the four consensus molecular subgroups of MB is the MYC-driven group 3 MB, whic...
Ependymomas, especially RELA fusion-positive and posterior fossa type A subtypes, are associated with dismal prognosis. Effective therapeutic strategies have not yet been identified. We set up a high-throughput drug screening (HTS) pipeline to evaluate clinically established compounds (n=196) in primary ependymoma cultures (n=12). As culturing epen...
Ependymoma is the third most common brain tumor in children and arises in diverse locations throughout the brain and spine. Cure remains elusive for many patients owing to profound intertumoral heterogeneity and commonly observed chemoresistance. We aimed to establish a high-throughput drug screening (HTS) pipeline for patient-derived primary cultu...
Juvenile myelomonocytic leukemia (JMML) is a chronic, poor prognostic myeloid neoplasm of childhood that is characterized by malignant expansion of monocytic cells. Chemo- and radiotherapy are not effective in JMML, therefore allogeneic hematopoietic stem cell transplantation is the only therapy option for most affected children. Relapse is the mos...
Aberrant activation of the sonic hedgehog (SHH) pathway is one of the key drivers of tumorigenesis in aggressive pediatric brain tumors. However, SHH pathway inhibitors for the treatment of brain tumors demonstrated only limited responses in clinical trials indicating that a better understanding of the human SHH pathway is needed. Using an integrat...
Ependymoma represents the third most common brain tumor entity of childhood. Successful targeted treatment approaches especially for RELA fusion-positive supratentorial ependymomas and posterior fossa type A ependymomas, the two subgroups known to be associated with worst prognosis, have so far not been discovered. We set up a high-throughput drug...
The current consensus recognizes four main medulloblastoma subgroups (wingless, Sonic hedgehog, group 3 and group 4). While medulloblastoma subgroups have been characterized extensively at the (epi-)genomic and transcriptomic levels, the proteome and phosphoproteome landscape remain to be comprehensively elucidated. Using quantitative (phospho)-pro...
Ependymoma is the third most common brain tumor in children. Subsets of ependymomas, in particular RELA fusion-positive supratentorial ependymomas and posterior fossa type A ependymomas, are associated with frequent recurrence and dismal outcome. Neurosurgical resection and radiotherapy are the main therapeutic options, while response to convention...
Methylphenidate (Ritalin) is the most commonly prescribed drug in the treatment of attention-deficit hyperactivity disorder. It is suggested that in vivo, methylphenidate treatment supports cortical maturation, however, the molecular and cellular mechanisms are not well understood. This study aimed to explore the potential effect of methylphenidate...
The sonic hedgehog (SHH) signaling pathway has been shown to play important roles in embryogenesis, cell proliferation as well as in cell differentiation. It is aberrantly activated in various common cancers in adults, but also in pediatric neoplasms, such as rhabdomyosarcoma (RMS) and atypical teratoid/rhabdoid tumors (AT/RTs). Dysregulation and g...
Methylphenidate (MPH), a psychostimulant, is an effective first-line treatment for the symptoms associated with Attention-Deficit/Hyperactivity Disorder (ADHD). Although most MPH formulations are composed of the racemic 1:1 mixture of the two enantiomers (d- and l-threo), converging lines of evidence indicate that d-threo MPH seems to be superior t...
Background Insulin-degrading enzyme (IDE) is the ubiquitously expressed enzyme responsible for insulin and amyloid beta (Aβ) degradation. IDE gene is located on chromosome region 10q23-q25 and exhibits a well-replicated peak of linkage with Type 2 diabetes mellitus (T2DM). Several genetic association studies examined IDE gene as a susceptibility ge...
The spontaneously hypertensive rat (SHR) has been used to model changes in the central nervous system associated with cognitive-related disorders. Recent human and animal studies indicate a possible relationship between cognitive deficits, insulin resistance and hypertension. We aimed to investigate whether cognitively impaired SHRs develop central...
The hallmarks of sporadic Alzheimer's disease (AD) are extracellular amyloid deposits, intracellular neurofibrillary tangles (NFTs), and neuronal death. Hyperphosphorylation of tau is a key factor in the generation of NFTs. Mitogen activated protein kinase 1 (MAPK1) and protein kinase C beta (PRKCB) are thought to play a role in hyperphosphorylatio...
Patients with Parkinson's disease receive selective irreversible monoamine oxidase (MAO)-B inhibitors, but their effects on MAO-A activity are not known during long-term application. We determined MAO-A inhibition in plasma samples from patients with MAO-B inhibitor intake or without MAO-B inhibitor treatment and from healthy controls. We detected...
Attention-deficit/hyperactivity disorder (ADHD) is highly prevalent in children and adolescents and both environmental and genetic factors play major roles. Polyunsaturated fatty acids (PUFAs) are postulated to contribute to the development of the infant brain and an imbalance in these may increase the risk of ADHD. In recent clinical studies, supp...
Oxidative stress is implicated in the pathogenesis of neurodegenerative diseases, including sporadic Alzheimer´s disease (AD). Mitochondrial DNA (mtDNA) deletions are markers of oxidative damage and increase with age. To unravel the impact of mtDNA damage on AD development, we analyzed mtDNA deletion levels in diverse neuronal cell types of four br...
Background: The psychostimulant methylphenidate (MPH) is the first choice of drug treatment in Attention-Deficit/Hyperactivity Disorder (ADHD). Since therapy often begins at a time when the brain is still developing and the long-term consequences of MPH are still not fully clarified, we examined the influences of an acute treatment with MPH on the...
Background
The psychostimulant methylphenidate (MPH) is the first choice of drug treatment in Attention-Deficit/Hyperactivity Disorder (ADHD). Since therapy often begins at a time when the brain is still developing and the long-term consequences of MPH are still not fully clarified, we examined the influences of an acute treatment with MPH on the d...
The neurodegenerative disorder Alzheimer's disease (AD) is the cause of approximately 60% of the world's 35 million patients suffering from dementia. Current research focuses here are on association with other diseases such as diabetes type 2 (T2DM), possible genetic markers, specific signal transduction pathways within the brain and potential prot...
Attention-deficit/hyperactivity disorder (ADHD) is one of the most common psychiatric disorders in children and adolescents, with up to 5 % affected worldwide. Twin and family studies on ADHD show its high familiality with heritability estimated around 70 %, but, to date, no specific polymorphism or gene was found to be specifically affected. Psych...
Although Alzheimer's dementia (AD) is not characterised any longer simply as the accumulation and deposition of amyloid beta (Aβ) peptides and hyperphosphorylation of tau proteins within the brain, excessive Aβ(42) deposition is still considered to play a major role in this illness. Aβ are able to adopt many differently aggregate forms, including a...
Attention-deficit hyperactivity disorder (ADHD) is a common behavioural disorder that affects not only children and adolescents but also adults; however, diagnosis of adult ADHD is difficult because patients seem to have reduced externalized behaviour. ADHD is a multifactorial disorder in which many genes, all with small effects, are thought to cau...
OBJECTIVES: Although Alzheimer's disease (AD) is the most common form of dementia in the elderly, its aetiology remains mostly unknown. A potential pathophysiological mechanism for AD arises from the knowledge that insulin is also synthesized independently in the central nervous system and is involved in the regulation of memory formation. AD may r...
Insulin degrading enzyme genotype distributions and tests for Hardy-Weinberg equilibrium. Insulin degrading enzyme (IDE) genotype distributions and tests for Hardy-Weinberg equilibrium (HWE) in analysis subgroups defined by cross-sectional outcomes. No significant departures from HWE were detected (all p > 0.001).
Power calculations for examined markers and outcomes. The presented additional file 3 indicate the power to find nominally significant associations (p < 0.05) given analysis settings used for the estimation of effect sizes shown in Tables 1 and 2. Abbreviations used: Aβ42 = amyloid beta 1-42 plasma concentration; AD = Alzheimer's disease; IDE2 = rs...
Linkage disequilibrium in the insulin degrading enzyme region. Linkage disequilibrium (LD) in the IDE gene region ± 10 kb is shown based on D' values between single nucleotide polymorphisms (SNPs) genotyped in the HapMap CEU panel (release 24). LD colour scheme corresponds to default settings used in Haploview. Positions of SNPs examined in the pre...
Demographic information of the VITA study cohort. Abbreviations used: AD = Alzheimer's disease; BMI = body mass index; SD = standard deviation; T2DM = Type 2 diabetes mellitus.
![Figure 1 Amyloid b 42 (Ab 42 ) plasma levels [pg/ml]. A) in insulin...](profile/Edna-Gruenblatt/publication/51821371/figure/fig2/AS:669623317970970@1536662048948/Amyloid-b-42-Ab-42-plasma-levels-pg-ml-A-in-insulin-degrading-enzyme-IDE2-SNP_Q320.jpg)
![Amyloid β42 (Aβ42) plasma levels [pg/ml]. A) in insulin degrading...](profile/Edna-Gruenblatt/publication/51821371/figure/fig1/AS:214131203416066@1428064265177/Amyloid-b42-Ab42-plasma-levels-pg-ml-A-in-insulin-degrading-enzyme-IDE2-SNP_Q320.jpg)
Insulin-degrading enzyme (IDE) is the ubiquitously expressed enzyme responsible for insulin and amyloid beta (Aβ) degradation. IDE gene is located on chromosome region 10q23-q25 and exhibits a well-replicated peak of linkage with Type 2 diabetes mellitus (T2DM). Several genetic association studies examined IDE gene as a susceptibility gene for Alzh...
Postmortem brain tissue has been reported to be suitable to delineate regional pattern of possible disturbances underlying epigenetic functionality. However, from many parameters that have been detected in postmortem brain regions it is noteworthy that an effect of postmortem interval (PMI), storage time and premortem parameters should not be under...
Both Alzheimer's disease (AD), the most common form of dementia, and type-2 diabetes mellitus (T2DM), a disease associated with metabolic syndrome (MetS), affect a great number of the world population and both have increased prevalence with age. Recently, many studies demonstrated that pre-diabetes, MetS, and T2DM are risk factors in the developmen...
There is ample evidence that impairments in the hypothalamic-pituitary-adrenal (HPA) axis are of etiopathobiochemical importance in a subgroup of patients with "depression", causing hypercortisolaemia as major metabolic effect. Chronic hypercortisolaemia causes insulin resistance. Therefore, it is not surprising that epidemiological studies demonst...
Both Alzheimer's disease (AD), the most common form of dementia, and type-2 diabetes mellitus (T2DM), a disease associated with metabolic syndrome (MetS), affect a great number of the world population and both have increased prevalence with age. Recently, many studies demonstrated that pre-diabetes, MetS, and T2DM are risk factors in the developmen...
The psychostimulant methylphenidate (MPH) is the first choice of treatment in attention-deficit hyperactivity disorder and is based mainly on inhibition of dopamine transporter (DAT). Nonetheless, the complete cellular effects of MPH are still unknown. We attempted to determine whether MPH influences neurotransmitter levels, synaptic gene expressio...
Alzheimer's disease (AD), the most common cause of dementia, is a progressive neurodegenerative disease. At present, diagnosis of AD is rather late in the disease. Therefore, we attempted to find peripheral biomarkers for the early diagnosis of AD. We investigated the profiles of 33 genes, previously found by our group to have altered expression in...
In ageing population, both Alzheimer's disease (AD) and depression are common. Significant depressive symptoms are often co-morbid with cognitive impairment and dementia. In this study, we attempted to find various factors and markers for both AD and depression in a longitudinal cohort, the Vienna-Transdanube-Aging (VITA)-study.
The VITA-Study cons...
Sporadic Alzheimer's (AD) and Parkinson's disease (PD) are late-onset neurodegenerative diseases with tremendous impact on lives of affected individuals. There is a great probability of developing concurrent Parkinsonism in AD and vice-versa than would be predicted by independent prevalence of each disease. We hypothesize that in sporadic AD as wel...
Excitatory neurotransmitter dysfunction has been discussed to be involved in the pathophysiology of Alzheimer's disease (AD). In the current study we investigated gene and protein expression patterns of glutamatergic receptors and transporters in brains of AD patients in various stages of disease using gene chip arrays, real time PCR and immunohist...
Questions
Questions (2)
After genotyping (S/L), we are using a digest method (Enzyme msp1) to distinguish between La/Lg, but after digest, there is a band in the gel we cannot explain. This happens always with the genotype S/L. The "ghost" band is marked in yellow and it cannot be from the S-allele (the band size makes no sense)....it seems like there is something not digested in the Lg, but we are not sure. Thanks for your help!
I know that in liquid the Amyloid beta 42 level should be less compared to Amyloid beta 40. But how is it in plasma?
