Publications by authors named "Louise Pease"

Article Synopsis
  • - Ataxia with oculomotor apraxia type 1 (AOA1) is a neurodegenerative disorder that leads to coordination issues in movement, speech, and eye tracking, caused by mutations in the APTX gene which is important for DNA repair.
  • - APTX deficiency results in mitochondrial dysfunction and increased DNA damage, which may activate immune responses, leading to inflammation due to misplacement of DNA in the cells.
  • - The study found that APTX knockout in microglial cells affects their immune response, with downregulation of key pathways related to DNA and RNA sensing, suggesting the need for further research into potential treatments for AOA1.
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The ageing process is highly complex involving multiple processes operating at different biological levels. Systems Biology presents an approach using integrative computational and laboratory study that allows us to address such complexity. The approach relies on the computational analysis of knowledge and data to generate predictive models that may be validated with further laboratory experimentation.

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Background: Less than 5% of medulloblastoma (MB) patients survive following failure of contemporary radiation-based therapies. Understanding the molecular drivers of medulloblastoma relapse (rMB) will be essential to improve outcomes. Initial genome-wide investigations have suggested significant genetic divergence of the relapsed disease.

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The development of tendinopathy is influenced by a variety of factors including age, gender, sex hormones and diabetes status. Cross platform comparative analysis of transcriptomic data elucidated the connections between these entities in the context of ageing. Tissue-engineered tendons differentiated from bone marrow derived mesenchymal stem cells from young (20-24 years) and old (54-70 years) donors were assayed using ribonucleic acid sequencing (RNA-seq).

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