Lisa Pavinato

🥼 Do you want to start working with human pluripotent stem cells?

📖 Check out our protocols collection "Good practices in hPSC handling", developed among the CorEuStem COST Action Project at COST Association

#stemcells

www.protocols.io/view/good-pr...

@caprin1-foundation.bsky.social 🧬

Happy to share our latest work on #CAPRIN1 linked #NDD at #neurogen25!
Thanks to @dmmjournal.bsky.social for supporting my attendance at this exciting conference ✨
#DMMgrants

Metabolic Atlas of Early Human Cortex Identifies Regulators of Cell Fate Transitions Characterization of cell type emergence during human cortical development, which enables unique human cognition, has focused primarily on anatomical and transcriptional characterizations. Metabolic pr...

🆕 in human 🧠 research! The @bhadurilab.bsky.social at @uclastemcell.bsky.social generated a metabolomic atlas of human cortical development using both primary tissue and stem-cell derived #organoids. The work identified a new regulator of radial glia cell fate. 🧪

www.biorxiv.org/content/10.1...

Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses - Scientific Reports Scientific Reports - Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses

🌟Finally out!

🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse!

Have a look www.nature.com/articles/s41...

Proud to be part of the Autism Sequencing Consortium, which keeps on contributing to the understanding of the genetics of neurodevelopmental disorders!

Have a look at our recent work 👇

Maybe not...but I would be happy to have a chat with you regarding this! Reach me out if possible (your profile doesn't allow private messages) 🙃

We need to stop this never-ending history of not accessible papers. Science needs to be shared, and we should find a solution. How can a paper from *1993* still not being accessible?!!

#OpenScience

An image extrapolated from a scientific paper, graphically showing the role of differentiation state and microenvironment in oncogenic competence

❓How does a cell become malignant?

🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’.

🔖In this Opinion, we highlight the most updated findings about the mechanisms behind *oncogenic competence*.

➡️https://authors.elsevier.com/c/1kW698Z12ybWbi

2025 starts with two novel works in the field of neurodevelopmental disorders-linked genes!

▶️ RICTOR, a novel genes involved in NDDs pubmed.ncbi.nlm.nih.gov/39738822/
▶️ TAOKs, a family of protein causing NDDs pubmed.ncbi.nlm.nih.gov/39737487/

Thanks to all the collaborators 💪

[Cortical Organoid image acquired by Oliviero Leonardi]

Very happy @ellylewerissa.bsky.social & @naelnadifkasri-lab.bsky.social are presenting our collective effort (co-led by O. Leonardi from G. Testa’s lab) to capture the role of CHD2 dosage in neurodevelopment (for disease & evolution), using organoids + 2D neurons #cshl2024brain (Poster 111, today!)

Starting the week with 7+ hours of cell culture be like: 🫠🫠

P.S.: yes, I know it's not a full book...but my mom will be happy in any case 😄 🥰

#science #CAPRIN1 #RareDisease #NeurodevelopmentalDisorder

chapter about the role of CAPRIN1 gene in neurological conditions:

Handbook of the Biology and Pathology of Mental Disorders
Chapter: Neurogenetic Disorders and CAPRIN1

Curious to read it? Let's have a look here: lnkd.in/dcztYgNX

(continue👇)

When I was a child I loved reading, and I wanted to become a writer ✍
Who knew I was destined to write for work...not books of course, but scientific stuff!
However, my name is finally also in a book, as we have been invited to write a (continue 👇)

Additionally, once more, the study of the methylation profile ("episignature") was fundamental for the classification of the variant. Overall, here we suggested that variants impacting exon 20 may be associated to a distinct form of Rubinstein–Taybi syndrome (RSTS).
Have a look: lnkd.in/dimVaVXi

Here, we show how a EP300 variant previously defined as of uncertain significance was actually pathogenic for our patient, causing three-dimensional alteration and skipping of exon 20.

continue 👇

Our last report is out today! 💥
Who works in the field of neurodevelopmental disorders knows how difficult may be to understand genomic data results, especially when the clinical presentation is different than the expected one.

continue 👇