C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.

ABSTRACT:

Objective

Excitatory neuronal homeostasis is crucial for neuronal survival, circuit function, and plasticity. Disruptions in this form of homeostasis are believed to underpin a variety of neuronal conditions including intellectual disability, epilepsy, and autism. However, the underlying genetic and molecular mechanisms maintaining this homeostasis remain poorly understood. Biallelic recurrent loss of function mutations in C12ORF57 , an evolutionarily conserved X amino acid novel open reading frame, underlie Temtamy syndrome (TS)-a neurodevelopmental disorder characterized by epilepsy, dysgenesis of the corpus callosum, and severe intellectual disability.

Methods

Through multiple lines of inquiry, we establish that C12ORF57/GRCC10 plays an unexpected central role in s

SUBMITTER: Jiang R 

PROVIDER: S-EPMC11838199 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature