A sticky situation: regulation and function of protein palmitoylation with a spotlight on the axon and axon initial segment

AA Petropavlovskiy, JA Kogut, A Leekha… - Neuronal …, 2021 - portlandpress.com
In neurons, the axon and axon initial segment (AIS) are critical structures for action potential
initiation and propagation. Their formation and function rely on tight compartmentalisation, a …

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome

SE Hurst, E Liktor-Busa, A Moutal, S Parker… - Neuronal …, 2018 - portlandpress.com
We investigated the genome of a 5-year-old male who presented with global developmental
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …