Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lukas Gerasimavicius"'
Autor:
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Publikováno v:
Molecular Systems Biology, Vol 20, Iss 7, Pp 825-844 (2024)
Abstract Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause these phenotypes, we combine
Externí odkaz:
https://doaj.org/article/46f6b432ee554b1bbff01429fb10cdbb
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Here the authors analyse the locations of thousands of human disease mutations and their predicted effects on protein structure and show that
Externí odkaz:
https://doaj.org/article/25ec647fd0494726b71c4fe1559ad371
Publikováno v:
Gerasimavicius, L, Livesey, B & Marsh, J A 2023, ' Correspondence between functional scores from deep mutational scans and predicted effects on protein stability ', Protein Science . https://doi.org/10.1002/pro.4688
Many methodologically diverse computational methods have been applied to the growing challenge of predicting and interpreting the effects of protein variants. As many pathogenic mutations have a perturbing effect on protein stability or intermolecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f15b1bd28aedb35a420b49ab9e20d5
https://www.pure.ed.ac.uk/ws/files/349191941/author_ms_May_23.pdf
https://www.pure.ed.ac.uk/ws/files/349191941/author_ms_May_23.pdf
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecular mechanisms underlying human genetic disease. Wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::903961fa761892d4688206470aa31a4e
https://doi.org/10.1101/2021.10.23.465554
https://doi.org/10.1101/2021.10.23.465554
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports
Gerasimavicius, L, Liu, X & Marsh, J A 2020, ' Identification of pathogenic missense mutations using protein stability predictors ', Scientific Reports . https://doi.org/10.1038/s41598-020-72404-w.
Scientific Reports
Gerasimavicius, L, Liu, X & Marsh, J A 2020, ' Identification of pathogenic missense mutations using protein stability predictors ', Scientific Reports . https://doi.org/10.1038/s41598-020-72404-w.
Attempts at using protein structures to identify disease-causing mutations have been dominated by the idea that most pathogenic mutations are disruptive at a structural level. Therefore, computational stability predictors, which assess whether a muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3899470549f8a6ce6d60cd24f69b7129
https://doi.org/10.1038/s41598-020-72404-w
https://doi.org/10.1038/s41598-020-72404-w
Autor:
Jonathan N. Wells, Lewis A Macdonald, Joseph A. Marsh, Jamilla Miles, Lukas Gerasimavicius, L. Therese Bergendahl, Julie P.I. Welburn
Publikováno v:
Protein Sci
Bergendahl, L, Gerasimavicius, L, Miles, J, MacDonald, L, Welburn, J & Marsh, J 2019, ' The Role of protein Complexes in Human Genetic Disease ', Protein Science, vol. 28, no. 8 . https://doi.org/10.1002/pro.3667
Bergendahl, L, Gerasimavicius, L, Miles, J, MacDonald, L, Welburn, J & Marsh, J 2019, ' The Role of protein Complexes in Human Genetic Disease ', Protein Science, vol. 28, no. 8 . https://doi.org/10.1002/pro.3667
Many human genetic disorders are caused by mutations in protein-coding regions of DNA. Taking protein structure into account has therefore provided key insight into the molecular mechanisms underlying human genetic disease. Although most studies have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aafeedac5c01fac05864835c7e6bcc77
https://pubmed.ncbi.nlm.nih.gov/31219644
https://pubmed.ncbi.nlm.nih.gov/31219644