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- Donkervoort, S., et al.
(författare)
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
- 2020
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 107:6, s. 1078-1095
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Tidskriftsartikel (refereegranskat)abstract
- The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization.
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2. |
- Tsagarakis, Konstantinos P., et al.
(författare)
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A review of the legal framework in shallow geothermal energy in selected European countries : Need for guidelines
- 2020
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Ingår i: Renewable Energy. - : Elsevier BV. - 0960-1481. ; 147:Part 2, s. 2556-2571
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Tidskriftsartikel (refereegranskat)abstract
- Over the past years, the installations of Shallow Geothermal Energy (SGE) systems are increasing throughout Europe, and it is indicating that a specific and detailed legal framework is necessary. Towards this direction, this paper consists of an overview of legislation issues on SGE at European level, based on concise reviews from fourteen countries, i.e., Croatia, Cyprus, France, Greece, Italy, Latvia, Lithuania, Poland, Portugal, Serbia, Slovenia, Spain, Sweden, and Turkey. Said reviews discuss key national legislation as well as experts’ experience in the procedure of SGE integration. Legal and technical issues are also critically discussed for all involved countries, both individually and collectively. Findings show that high diversity exists on legislation provisions as well as on regulations, standards, and institutional support amongst European countries. The latter acts as an effective barrier for the further development of the SGE market; therefore indicating the need for a common approach. Increase of awareness, need for standardization, improvement of legal framework, and administration procedures and permitting, are essential steps in moving forward and supporting the effectiveness of design, construction, maintenance, and operation of SGE systems.
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