Publications by authors named "I H Willis"

The CABANA project (Capacity Building for Bioinformatics in Latin America) was funded by the UK's Global Challenges Research Fund in 2017 with the aim to strengthen the bioinformatics capacity and extend its applications in Latin America focused on three challenge areas - communicable diseases, sustainable food production and protection of biodiversity. For 5 years, the project executed activities including data analysis workshops, train-the-trainer workshops, secondments, eLearning development, knowledge exchange meetings, and research projects in 10 countries. The project was successful in accomplishing all its goals with a major impact on the region.

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Cells counter accumulation of misfolded secretory proteins in the endoplasmic reticulum (ER) through activation of the Unfolded Protein Response (UPR). Small molecules termed chemical chaperones can promote protein folding to alleviate ER stress. The bile acid tauroursodeoxycholic acid (TUDCA), has been described as a chemical chaperone.

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Article Synopsis
  • This study identifies a new type of autosomal recessive intellectual disability linked to genetic variants in the GTF3C3 gene, which is essential for proper RNA polymerase III activity.
  • Researchers employed various methods, including exome sequencing and Drosophila models, to analyze the effects of GTF3C3 variants found in twelve affected individuals from seven families.
  • The results showed that the variants lead to significant functional losses in the gene, correlating with symptoms like intellectual disability, motor issues, seizures, and brain structure abnormalities.
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Pathogenic variants in subunits of RNA polymerase (Pol) III cause a spectrum of -related neurodegenerative diseases including 4H leukodystrophy. Disease onset occurs from infancy to early adulthood and is associated with a variable range and severity of neurological and non-neurological features. The molecular basis of -related disease pathogenesis is unknown.

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Malaria affects almost 250 million people annually and continues to be a significant threat to global public health. Infection with protozoan parasites from the genus Plasmodium causes malaria. The primary treatment for malaria is artemisinin-based combination therapies (ACTs).

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