Karissa Barthelson
University of Adelaide
25 Papers
30 Citations
Karissa Barthelson is an academic researcher from University of Adelaide. The author has contributed to research in topics: Mutation & Zebrafish. The author has an hindex of 4, co-authored 16 publications.
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Papers
Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimer’s disease
TL;DR: Target mutagenesis of the orthologous gene in zebrafish provides insight into the possible early brain molecular effects of an EOfAD mutation in human SORL1 and identifies subtle effects on expression of genes involved in energy production, mRNA translation and mTORC1 signalling in both the E ofAD-like and null mutant brains.
Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer’s Disease
Karissa Barthelson,Morgan Newman,Michael Lardelli +2 more
- 02 May 2020
TL;DR: The genetics of SORL1 in AD is reviewed and potential roles it could play in AD pathogenesis are discussed, as it appears to show strong associations with the common, late-onset, sporadic form of AD and the rare, early-ONSet familial form ofAD.
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PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.
TL;DR: In this article, a brain transcriptome analysis of young adult zebrafish was performed to identify similarities and differences in the effects of heterozygosity for psen1 mutations causing familial acne inversa (fAI) without EOfAD.
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Transcriptome analyses of 7-day-old zebrafish larvae possessing a familial Alzheimer’s disease-like mutation in psen1 indicate effects on oxidative phosphorylation, ECM and MCM functions, and iron homeostasis
TL;DR: In this article, the authors used a paired-mating strategy to reduce extraneous genetic variation before performing a comparative transcriptome analysis to determine whether similar effects occur in 7-day post fertilization (dpf) zebrafish larvae that might be exploited in screening of chemical libraries to find ameliorative drugs.
Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimers disease
TL;DR: The authors' results provide insight into the possible early brain molecular effects of an EOfAD mutation in human SORL1 and identify subtle effects on expression of genes involved in energy production, mRNA translation and mTORC1 signalling in both the E ofAD-like and null mutant brains, implying that these effects are due to sorl1 haploinsufficiency.