All Outputs (4)

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model (2020)
Journal Article
Ketley, A., Wojciechowska, M., Ghidelli-Disse, S., Bamborough, P., Ghosh, T. K., Morato, M. L., …Brook, J. D. (2020). CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model. Science Translational Medicine, 12(541), Article eaaz2415. https://doi.org/10.1126/scitranslmed.aaz2415

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Myotonic dystrophy type 1 (DM1) is an RNA-based disease with no current treatment.... Read More about CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines (2014)
Journal Article
Ketley, A., Chen, C. Z., Li, X., Arya, S., Robinson, T. E., Granados-Riveron, J. T., …Brook, J. D. (2014). High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines. Human Molecular Genetics, 23(6), https://doi.org/10.1093/hmg/ddt542

Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment. We have developed a medium throughput phenotypic assay, based on the identification of nuclear foci in DM patient cell lines using in situ hybridization... Read More about High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.

The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development (2013)
Journal Article
Ketley, A., Warren, A., Holmes, E., Gering, M., Aboobaker, A. A., & Brook, J. D. (2013). The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development. PLoS ONE, 8(6), Article e65170. https://doi.org/10.1371/journal.pone.0065170

The importance of microRNAs in development is now widely accepted. However, identifying the specific targets of individual microRNAs and understanding their biological significance remains a major challenge. We have used the zebrafish model system to... Read More about The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development.

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations (2012)
Journal Article
Granados-Riveron, J. T., Pope, M., Bu'Lock, F. A., Thornborough, C., Eason, J., Setchfield, K., …Brook, D. (2012). Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations. Congenital Heart Disease, 7(2), https://doi.org/10.1111/j.1747-0803.2011.00573.x

Background: Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage... Read More about Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.