Ana Luı́sa Carvalho

This study identifies ARHGAP8 as a novel synaptic protein involved in excitatory synapse morphology and function, with implications for neurodevelopmental and psychiatric disorders.

This study shows that CLR01, a supramolecular tweezer, reduces Atx3 aggregation by binding to a specific site, delaying fibril formation and improving symptoms in SCA3 models.

This study identifies type I TARPs as regulators of Kv7.2 potassium channels and shows their role in modulating neuronal excitability and seizure susceptibility.

The paper expands the phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndromes by analyzing clinical data from 106 NAA10 and 66 NAA15 variant carriers, revealing variable severity and multi-system involvement.

This study identifies ATXN3's role in regulating neuronal mRNA splicing and Tau isoform ratio through deubiquitylation of splicing factors, linking it to SCA3 pathology.

This study shows that a stargazin mutation causes cognitive and synaptic defects in mice, linking it to intellectual disability.

This study shows that constitutive ghrelin receptor activity regulates AMPA receptor trafficking and synaptic plasticity, and its inhibition impairs memory.