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Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

Autor: Yao H. Zhang, Johan L. Van Hove, Edward R.B. McCabe, Katrina M. Dipple

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 42-45 (2015)

Glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism at the interface of fat and carbohydrate metabolism. We report a male patient with GKD and a novel insertion of TT in exon 5 at position 378 of the GK cDNA (378–379insTT). T

Externí odkaz: https://doaj.org/article/57a51e9e04654a5fa73a6a009f79e248

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

Autor: Paul S. Kruszka, Brian Kirmse, Dina J. Zand, Kristina Cusmano-Ozog, Elaine Spector, Johan L. Van Hove, Kimberly A. Chapman

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 237-240 (2014)

This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (patern

Externí odkaz: https://doaj.org/article/0ab544cf9fd8489aaf92d33a580d5dee

Bora phosphorylation substitutes in trans for T-loop phosphorylation in Aurora A to promote mitotic entry

Autor: Pierre Maisonneuve, Nicolas Joly, O. Gavet, Y. Thomas, Thierry Lorca, Anna Castro, P. Mader, Nicolas Tavernier, Geneviève M.C. Gasmi-Seabrook, Stephen Orlicky, Mary Dasso, L. van Hove, Lionel Pintard, Saroj G. Regmi, Nicholas M. Levinson, Griselda Velez-Aguilera, M. Poteau, Suzanne Vigneron, Frank Sicheri

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-21922-w⟩

Polo-like kinase 1 (Plk1) is instrumental for mitotic entry and progression. Plk1 is activated by phosphorylation on a conserved residue Thr210 in its activation segment by the Aurora A kinase (AURKA), a reaction that critically requires the co-facto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6acee8b9ada9c7f45d5760fd63a6a8
http://hdl.handle.net/20.500.12278/33998

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