Es solo una prueba de concepto llevada a cabo en un modelo celular, pero este estudio constituye un primer paso hacia su posible uso terapéutico

El profesor Lucas es parte esencial del prometedor hallazgo que relaciona la proteína CPEB4 y el autismo: "Una legión de investigadores nos dejamos el pellejo en generar conocimiento que tendrá una ap...

The regulator, CPEB4, typically controls protein production for hundreds of autism-linked genes, but an alternative version of it found in autistic people forms irreversible clumps and malfunctions.

The molecular mechanisms of how small changes in the degree of inclusion of a neuron-specific microexon in CPEB4 lead to dominant-negative effects in the expression of genes associated with autism spe...

Intrinsically disordered regions (IDRs) of proteins can regulate function through phase separation. In a recent article in Nature, Garcia-Cabau et al. reveal that including or excluding a microexon wi...

Un estudio del Institut de Recerca Biomèdica Barcelona (IRB) ha descubierto un mecanismo molecular relacionado con "ciertas alteraciones en la prote

A team of Spanish scientists has discovered the mechanism that could explain a high percentage of autism spectrum disorders

The inclusion of microexons by alternative splicing occurs frequently in neuronal proteins. The roles of these sequences are largely unknown, and changes in their degree of inclusion are associated with neurodevelopmental disorders1. We have previously shown that decreased inclusion of a 24-nucleotide neuron-specific microexon in CPEB4, a RNA-binding protein that regulates translation through cytoplasmic changes in poly(A) tail length, is linked to idiopathic autism spectrum disorder (ASD)2. Why this microexon is required and how small changes in its degree of inclusion have a dominant-negative effect on the expression of ASD-linked genes is unclear. Here we show that neuronal CPEB4 forms condensates that dissolve after depolarization, a transition associated with a switch from translational repression to activation. Heterotypic interactions between the microexon and a cluster of histidine residues prevent the irreversible aggregation of CPEB4 by competing with homotypic interacti

ciencia, autismo

The molecular mechanisms of how small changes in the degree of inclusion of a neuron-specific microexon in CPEB4 lead to dominant-negative effects in the expression of genes associated with autism spe...

A team of Spanish scientists has discovered the mechanism that could explain a high percentage of autism spectrum disorders

Descoberta sobre a proteína CPEB4 revela novos caminhos.

Autism is a neurodevelopmental disorder characterized by difficulties in communication and social behavior. Approximately 20% of cases are linked to a specific genetic mutation, but the origin of the remaining 80%, known as idiopathic autism, remains a mystery.