Article
Molecular annotation of G protein variants in a neurological disorder.
Cell reports - 26 Dec 2023
Knight Kevin M, Obarow Elizabeth G, Wei Wenyuan, Mani Sepehr, Esteller Maria I, Cui Meng, Ma Ning, Martin Sarah A, Brinson Emily, Hewitt Natalie, Soden Gaby M, Logothetis Diomedes E, Vaidehi Nagarajan, Dohlman Henrik G
Abstract excerpt
Heterotrimeric G proteins transduce extracellular chemical messages to generate appropriate intracellular responses. Point mutations in GNAO1, encoding the G protein αo subunit, have been implicated in a pathogenic condition characterized by seizures, movement disorders, intellectual disability, and developmental delay (GNAO1 disorder). However, the effects of these mutations on G protein structure and function...
Topics
- Humans
- Mutation
- Movement Disorders
- Point Mutation
- GTP-Binding Proteins
- GTP-Binding Protein alpha Subunits, Gi-Go