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| 2. |
- Liu, Z. G., et al.
(författare)
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
- 2023
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Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 32:20, s. 2981-2995
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Tidskriftsartikel (refereegranskat)abstract
- Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that PPP1R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that PPP1R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function.
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| 3. |
- Kattge, Jens, et al.
(författare)
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TRY plant trait database - enhanced coverage and open access
- 2020
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Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
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Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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| 4. |
- Pelkmans, Luc, et al.
(författare)
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The role of sustainability requirements in international bioenergy markets
- 2013
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Ingår i: International Bioenergy Trade. - : Springer. - 9789400769816 ; , s. 125-149
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Bokkapitel (refereegranskat)abstract
- As the main driver for bioenergy is to enable society to transform to more sustainable fuel and energy production systems, it is important to safeguard that bioenergy deployment happens within certain sustainability constraints. There is currently a high number of initiatives, including binding regulations and several voluntary sustainability standards for biomass, bioenergy and/or biofuels. Within IEA Bioenergy studies were performed to monitor the actual implementation process of sustainability regulations and certification, evaluate how stakeholders are affected and envisage the anticipated impact on worldwide markets and trade. On the basis of these studies, recommendations were made on how sustainability requirements could actually support further bioenergy deployment. Markets would gain from more harmonization and cross-compliance. A common language is needed as ‘sustainability’ of biomass involves different policy arenas and legal settings. Policy pathways should be clear and predictable, and future revisions of sustainability requirements should be open and transparent. Sustainability assurance systems (both through binding regulations and voluntary certification) should take into account how markets work, in relation to different biomass applications (avoiding discrimination among end-uses and users). It should also take into account the way investment decisions are taken, administrative requirements for smallholders, and the position of developing countries.
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| 5. |
- Pelkmans, Luc, et al.
(författare)
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The role of sustainability requirements in international bioenergy markets
- 2014
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Ingår i: Lecture Notes in Energy. - Dordrecht : Springer Netherlands. - 2195-1292 .- 2195-1284. ; 17:1, s. 125-149
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Tidskriftsartikel (refereegranskat)abstract
- As the main driver for bioenergy is to enable society to transform to more sustainable fuel and energy production systems, it is important to safeguard that bioenergy deployment happens within certain sustainability constraints. There is currently a high number of initiatives, including binding regulations and several voluntary sustainability standards for biomass, bioenergy and/or biofuels. Within IEA Bioenergy studies were performed to monitor the actual implementation process of sustainability regulations and certification, evaluate how stakeholders are affected and envisage the anticipated impact on worldwide markets and trade. On the basis of these studies, recommendations were made on how sustainability requirements could actually support further bioenergy deployment. Markets would gain from more harmonization and cross-compliance. A common language is needed as 'sustainability' of biomass involves different policy arenas and legal settings. Policy pathways should be clear and predictable, and future revisions of sustainability requirements should be open and transparent. Sustainability assurance systems (both through binding regulations and voluntary certification) should take into account how markets work, in relation to different biomass applications (avoiding discrimination among end-uses and users). It should also take into account the way investment decisions are taken, administrative requirements for smallholders, and the position of developing countries.
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