The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix.
Cell Chem Biol
; 25(5): 513-518.e4, 2018 05 17.
Article
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| MEDLINE
| ID: mdl-29606577
ABSTRACT
O-linked ß-N-acetyl-D-glucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential post-translational modification that is abundant in the brain. Recently, OGT mutations have been associated with intellectual disability, although it is not understood how they affect OGT structure and function. Using a multi-disciplinary approach we show that the L254F OGT mutation leads to conformational changes of the tetratricopeptide repeats and reduced activity, revealing the molecular mechanisms contributing to pathogenesis.
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MEDLINE
Asunto principal:
N-Acetilglucosaminiltransferasas
/
Discapacidad Intelectual
Idioma:
En
Revista:
Cell Chem Biol
Año:
2018
Tipo del documento:
Article