1. |
- Kanai, M, et al.
(author)
-
- 2023
-
swepub:Mat__t
|
|
2. |
- Niemi, MEK, et al.
(author)
-
- 2021
-
swepub:Mat__t
|
|
3. |
- Rahnev, D, et al.
(author)
-
The Confidence Database
- 2020
-
In: Nature human behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 4:3, s. 317-325
-
Journal article (peer-reviewed)
|
|
4. |
- Kurzawa-Akanbi, M., et al.
(author)
-
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders
- 2021
-
In: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 142, s. 961-984
-
Journal article (peer-reviewed)abstract
- Mutations in glucocerebrosidase (GBA) are the most prevalent genetic risk factor for Lewy body disorders (LBD)-collectively Parkinson's disease, Parkinson's disease dementia and dementia with Lewy bodies. Despite this genetic association, it remains unclear how GBA mutations increase susceptibility to develop LBD. We investigated relationships between LBD-specific glucocerebrosidase deficits, GBA-related pathways, and alpha-synuclein levels in brain tissue from LBD and controls, with and without GBA mutations. We show that LBD is characterised by altered sphingolipid metabolism with prominent elevation of ceramide species, regardless of GBA mutations. Since extracellular vesicles (EV) could be involved in LBD pathogenesis by spreading disease-linked lipids and proteins, we investigated EV derived from post-mortem cerebrospinal fluid (CSF) and brain tissue from GBA mutation carriers and non-carriers. EV purified from LBD CSF and frontal cortex were heavily loaded with ceramides and neurodegeneration-linked proteins including alpha-synuclein and tau. Our in vitro studies demonstrate that LBD EV constitute a "pathological package" capable of inducing aggregation of wild-type alpha-synuclein, mediated through a combination of alpha-synuclein-ceramide interaction and the presence of pathological forms of alpha-synuclein. Together, our findings indicate that abnormalities in ceramide metabolism are a feature of LBD, constituting a promising source of biomarkers, and that GBA mutations likely accelerate the pathological process occurring in sporadic LBD through endolysosomal deficiency.
|
|
5. |
- Sundkvist, S. G., et al.
(author)
-
On-going development and recent results of the research in the Swedish Gas Turbine Centre (GTC)
- 2004
-
In: Proc. ASME Turbo Expo. - : ASMEDC. ; , s. 261-268
-
Conference paper (peer-reviewed)abstract
- This paper describes a way of co-operation between industries, universities and government that has proven to be very fruitful. The Swedish Gas Turbine Centre (GTC) is constituted as a research consortium between technical universities and gas turbine industry. The overall goal of the centre, that was founded in 1996 on a governmental initiative, is to build up a basis of knowledge at Swedish universities to support the industrial development in Sweden of gas turbines of the future with expected requirements on low emissions, high efficiencies, high availability, and low costs. Since the start the research has had a focus on high temperature components of gas turbines (combustion chamber and turbine). This is also reflected in the on-going development phase where the research program consists of four project areas: cooling technology, combustion technology, aeroelasticity, and life time prediction of hot components. The projects are aiming at developing design tools and calculation and verification methods within these fields. A total of eleven research students (among them one industrial PhD student) are active in the centre at present. Numerical analysis as well as experimental verification in test rigs are included. The program has so far produced eleven Licentiate of Engineering and five PhD. On-going activities and recent results of the research in the four research areas are presented: A new test rig for investigation of time-dependent pressures of three-dimensional features on a vibrating turbine blade at realistic Mach, Reynolds and Strouhal numbers and first experimental results. Results of numerical simulations of heat loads on turbine blades and vanes, especially platform cooling. First results of numerical investigations of combustion and thermo-acoustic instabilities in gas turbine chambers. Experimental investigation of crack propagation in gas turbine materials using the scanning electron microscope (SEM).
|
|
6. |
|
|
7. |
- Hannelius, U, et al.
(author)
-
Large-scale zygosity testing using single nucleotide polymorphisms
- 2007
-
In: Twin research and human genetics : the official journal of the International Society for Twin Studies. - : Cambridge University Press (CUP). - 1832-4274. ; 10:4, s. 604-625
-
Journal article (peer-reviewed)abstract
- A requirement for performing robust genetic and statistical analyses on twins is correctly assigned zygosities. In order to increase the power to detect small risk factors of disease, zygosity testing should also be amenable for high throughput screening. In this study we validate and implement the use of a panel of 50 single nucleotide polymorphisms (SNPs) for reliable high throughput zygosity testing and compare it to a panel of 16 short tandem repeats (STRs). We genotyped both genomic (gDNA) and whole genome amplified DNA (WGA DNA), ending up with 47 SNP and 11 STR markers fulfilling our quality criteria. Out of 99 studied twin pairs, 2 were assigned a different zygosity using SNP and STR data as compared to self reported zygosity in a questionnaire. We also performed a sensitivity analysis based on simulated data where we evaluated the effects of genotyping error, shifts in allele frequencies and missing data on the qualitative zygosity assignments. The frequency of false positives was less than 0.01 when assuming a 1% genotyping error, a decrease of 10% of the observed minor allele frequency compared to the actual values and up to 10 missing markers. The SNP markers were also successfully genotyped on both gDNA and WGA DNA from whole blood, saliva and filter paper. In conclusion, we validate a robust panel of 47 highly multiplexed SNPs that provide reliable and high quality data on a range of different DNA templates.
|
|