Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Robert J. Bryson Richardson"'
Autor:
Lee B. Miles, Vanessa Calcinotto, Sara Oveissi, Rita J. Serrano, Carmen Sonntag, Orlen Mulia, Clara Lee, Robert J. Bryson-Richardson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract Site-directed insertion is a powerful approach for generating mutant alleles, but low efficiency and the need for customisation for each target has limited its application. To overcome this, we developed a highly efficient targeted insertion
Externí odkaz:
https://doaj.org/article/584c8953d12d42fcab9d6a7ad387a9f8
Autor:
Rita J. Serrano, Clara Lee, Alon M. Douek, Jan Kaslin, Robert J. Bryson-Richardson, Tamar E. Sztal
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 3 (2022)
Cyclin-dependent kinase-like-5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodegenerative disease characterised by early-onset epileptic seizures, low muscle tone, progressive intellectual disability and severe motor function. CDD affec
Externí odkaz:
https://doaj.org/article/350b55da664c4c53a07704acd77dfab0
Autor:
Jessica R. Terrill, Corinne Huchet, Caroline Le Guiner, Aude Lafoux, Dorian Caudal, Ankita Tulangekar, Robert J. Bryson-Richardson, Tamar E. Sztal, Miranda D. Grounds, Peter G. Arthur
Publikováno v:
Metabolites, Vol 13, Iss 2, p 232 (2023)
Inflammation and oxidative stress are strongly implicated in the pathology of Duchenne muscular dystrophy (DMD), and the sulphur-containing amino acid taurine ameliorates both and decreases dystropathology in the mdx mouse model for DMD. We therefore
Externí odkaz:
https://doaj.org/article/73f0d61bc9a144188eaf04e1413481af
Autor:
Connie Fung, Brendan Wilding, Ralf B. Schittenhelm, Robert J. Bryson-Richardson, Phillip I. Bird
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2475 (2023)
Individuals homozygous for the Pi*Z allele of SERPINA1 (ZAAT) are susceptible to lung disease due to insufficient α1-antitrypsin secretion into the circulation and may develop liver disease due to compromised protein folding that leads to inclusion
Externí odkaz:
https://doaj.org/article/d41c267b61bf47928fdc2ad0077fda34
Autor:
Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-10 (2018)
Abstract Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are
Externí odkaz:
https://doaj.org/article/8cc6ba4097cf4c9bb514e650b9af4952
Autor:
Manjula Algama, Edward Tasker, Caitlin Williams, Adam C. Parslow, Robert J. Bryson-Richardson, Jonathan M. Keith
Publikováno v:
BMC Genomics, Vol 18, Iss 1, Pp 1-14 (2017)
Abstract Background Computational identification of non-coding RNAs (ncRNAs) is a challenging problem. We describe a genome-wide analysis using Bayesian segmentation to identify intronic elements highly conserved between three evolutionarily distant
Externí odkaz:
https://doaj.org/article/0136b7119bc04100b84b7e0af6c3ecdb
Autor:
Tamar E Sztal, Emily A McKaige, Caitlin Williams, Avnika A Ruparelia, Robert J Bryson-Richardson
Publikováno v:
PLoS Genetics, Vol 14, Iss 2, p e1007212 (2018)
The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified as genetic compensation. Whilst this intriguing process has been recognized in zebrafish,
Externí odkaz:
https://doaj.org/article/7482877a30ad48aaa88dee76507bfac6
Publikováno v:
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Translational Psychiatry
Translational Psychiatry
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder of childhood with a strong genetic component. Despite the success of mapping ADHD risk loci, little work has been done to experimentally verify the contribution of these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aea35a47864de2f1c405d97d1386623e
http://link.springer.com/article/10.1038/s41398-020-01077-w
http://link.springer.com/article/10.1038/s41398-020-01077-w
Autor:
Mirella Meregalli, Josée N. Lavoie, Viola Oorschot, Keith E. Schulze, Emily A. McKaige, Emily C. Baxter, Emmanuelle Lacène, Keyne Monro, Margit Fuchs, Rita J. Serrano, Avnika A. Ruparelia, Clara Yun Qi Lee, Caitlin Williams, Robert J. Bryson-Richardson, Georg Ramm, Yvan Torrente, Tanya Stojkovic
Publikováno v:
Autophagy
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, and identify thera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e16895245d610b66231b5d46a9172c
https://doi.org/10.1080/15548627.2020.1833500
https://doi.org/10.1080/15548627.2020.1833500
Autor:
Erin K. O'Ferrall, Vladimir V. Rymar, Abbas F. Sadikot, Bernard Brais, Marie Josée Dicaire, Rebecca Robertson, Robert J. Bryson-Richardson, Talita C. Conte, Jason C. Young, Josée N. Lavoie
Publikováno v:
The American Journal of Pathology. 190:554-562
BCL-2-associated athanogene 3 (BAG3) is a co-chaperone to heat shock proteins important in degrading misfolded proteins through chaperone-assisted selective autophagy. The recurrent dominant BAG3-P209L mutation results in a severe childhood-onset myo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9a37286fea4b97516e6f1760c753751
https://doi.org/10.1016/j.ajpath.2019.11.005
https://doi.org/10.1016/j.ajpath.2019.11.005