Out @Nature!
TDP-43 path induces crucial synaptic UNC13A mis-splicing and loss. ALS risk SNPs exacerbate this, worsening disease progression.
We uncover the elusive UNC13A risk SNP mechanism, suggesting patients may do better if we correct UNC13A splicing.
nature.com/articles/s4158…
Please like and RT this to your followers to educate the wider world about the rare, genetic, neuromuscular condition, Spinal Muscular Atrophy (SMA). Together, we can help spread the word. Thank you 💙#RareDiseaseDay2022#SMAawareness
❗️Seminar approaching❗️
⏲️ February 4th, 10am
🧑🔬Toma Tebaldi @tomalistar
🧪Two tales of RNA and disease: from altered splicing to aberrant RNA modifications, conformations and granules
Live at @CIBIO_UniTrento and online (write to us for more info)
Results of a study showing #Zolgensma can benefit SMA children previously treated with #nusinersen, were recently published in the October 2021 Lancet medical journal: bit.ly/3GGUPhJ
Il tuo #Natale può essere diverso con @Fond_AriSLA. Scegli questa speciale favola per contribuire a supportare la #ricerca scientifica sulla #SLA.
Grazie per il tuo dono!
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