Publications by authors named "Anna-Karin B Gerdin"
Article Synopsis
- - Ubiquitination is essential for neurodevelopment, with alterations in the UBE3A gene linked to Angelman syndrome; however, the role of its paralog, UBE3B, is less understood.
- - This study identifies biallelic UBE3B mutations in patients with a specific autosomal recessive syndrome, leading to developmental delays and other physical symptoms, and highlights the impact of these mutations on the function of the UBE3B protein.
- - Research involving mouse models demonstrates that loss of Ube3b reduces viability and mimics human symptoms, emphasizing the critical role of UBE3B and ubiquitination in brain development and function.
Scientists aspire to measure cause and effect. Unfortunately confounding variables, ones that are associated with both the probable cause and the outcome, can lead to an association that is true but potentially misleading. For example, altered body weight is often observed in a gene knockout; however, many other variables, such as lean mass, will also change as the body weight changes.
View Article and Find Full Text PDFTo further the functional annotation of the mammalian genome, the Sanger Mouse Genetics Programme aims to generate and characterise knockout mice in a high-throughput manner. Annually, approximately 200 lines of knockout mice will be characterised using a standardised battery of phenotyping tests covering key disease indications ranging from obesity to sensory acuity. From these findings secondary centres will select putative mutants of interest for more in-depth, confirmatory experiments.
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