Article
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Human genetics - 1 Feb 2017
Bramswig Nuria C, Lüdecke H-J, Pettersson M, Albrecht B, Bernier R A, Cremer K, Eichler E E, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy H M, de Vries B B A, Wieland T, Engels H, Strom T M, Kleefstra T, Wieczorek D
Abstract excerpt
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone...
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