🫧🔍Key breakthrough in #autism: pivotal role of #CPEB4 condensates revealed. 💊The study opens new avenues for the development of targeted treatments for autism. 📰 Nature @natureportfolio.bsky.social ✍️ Carla Garcia-Cabau, Anna Bartomeu et al. ➡️ bit.ly/3BfEGlR 📌 DOI: 10.1038/s41586-024-08289-w - ThreadSky

irbbarcelona.org • 106 days ago

🫧🔍Key breakthrough in #autism: pivotal role of #CPEB4 condensates revealed.

💊The study opens new avenues for the development of targeted treatments for autism.

📰 Nature @natureportfolio.bsky.social

✍️ Carla Garcia-Cabau, Anna Bartomeu et al.

➡️ https://bit.ly/3BfEGlR

📌 DOI: 10.1038/s41586-024-08289-w

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irbbarcelona.org•106 days ago

#Autism is a neurodevelopmental disorder characterised by difficulties in communication and social behaviour.

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.

irbbarcelona.org•106 days ago

A team of scientists led by Dr. Raúl Méndez & Dr. @xsalvatella1.bsky.social at #IRBBarcelona has identified a molecular mechanism that explains why certain alternations of the neuronal protein #CPEB4 are associated with idiopathic autism.

irbbarcelona.org•106 days ago

The study is based on previous work published in 2018 that identified #CPEB4 as a key protein in the regulation of neuronal proteins related to #autism.

➡️ https://tinyurl.com/4y9ryuxy

📌 Nature @natureportfolio.bsky.social DOI: 10.1038/s41586-018-0423-5

irbbarcelona.org•106 days ago

Back in 2018, the researchers observed that, in individuals with autism, the #CPEB4 protein lacked a specific neuronal microexon —a tiny segment of genetic material crucial for protein function in the neurons.

irbbarcelona.org•106 days ago

The work published today in Nature reveals that this small fragment is key for neuronal activity because it preserves the flexibility of #CPEB4 to assemble into condensates and disassemble them.

irbbarcelona.org•106 days ago

🗣️Drs. Carla Garcia-Cabau & Anna Bartomeu (1st authors): "Our results suggest that even small decreases in the percentage of microexon inclusion can have significant effects. This would explain why some individuals without a gene mutation develop idiopathic autism."

helogan.bsky.social•98 days ago

Hello from an autistic university professor! This is a friendly reminder that most autistic people have no desire to be "cured" (or to have our births prevented) and we consider this type of research to be actively harmful to the autistic community by reinforcing pathological narratives about us.

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