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Sökning: WFRF:(Macpherson Hannah)

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1.
  • Gustavsson, Emil K., et al. (författare)
  • The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
  • 2024
  • Ingår i: Science Advances. - 2375-2548. ; 10:26, s. 1-20
  • Tidskriftsartikel (refereegranskat)abstract
    • Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson’s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1. We show that >50% of short RNA-sequencing reads mapping to GBA1 also map to GBAP1. Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantify expression from both GBA1 and GBAP1. We discovered significant differences in expression compared to short-read data and identify currently unannotated transcripts of both GBA1 and GBAP1. These included protein-coding transcripts from both genes that were translated in human brain, but without the known lysosomal function—yet accounting for almost a third of transcription. Analyzing brain-specific cell types using long-read and single-nucleus RNA sequencing revealed region-specific variations in transcript expression. Overall, these findings suggest nonlysosomal roles for GBA1 and GBAP1 with implications for our understanding of the role of GBA1 in health and disease.
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2.
  • Hart, Angie, et al. (författare)
  • RESILIENCE-BUILDING WITH DISABLED CHILDREN AND YOUNG PEOPLE : A REVIEW AND CRITIQUE OF THE ACADEMIC EVIDENCE BASE
  • 2014
  • Ingår i: International Journal of Child, Youth & Family Studies. - 1920-7298. ; 5:3, s. 394-422
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of this paper was to review published accounts of resilience-based approaches with and for disabled children and young people aged up to 25 years.  The review is part of a broader study looking more generally at resilience-based interventions with and for young people.  The authors attempt to summarise the approaches and techniques that might best support those children and young people who need them the most.  However, when compared to the number of evaluated resilience-based approaches to working with typically-developing children and young people, those including children and young people with complex needs are disappointingly lacking.  Of 830 retrieved references, 46 were relevant and 23 met the inclusion criteria and form the body of this review.  They covered a variety of intervention content, setting, and delivery, and diverse children and young people, making comparative evaluation prohibitive.  The difficulties in identifying suitable resilience-based interventions are discussed, together with the authors’ iterative approach, which was informed by realist review methodology for complex social interventions.  The review is set into a context of exclusion, an ableist mind-set and the political economy of research. It also provides recommendations for future research and practice development in this field.
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