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Catarina

@cperdigao.bsky.social

Neuroscientist @ Max Planck Institute for Multidisciplinary Sciences (Göttingen) Ubiquitin-like Modifiers • Cell Biology of the Neuron • Neurodevelopmental and neurodegenerative disorders

2 Followers  |  20 Following  |  5 Posts  |  Joined: 24.02.2026  |  1.4173

Latest posts by cperdigao.bsky.social on Bluesky


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Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function - EMBO Molecular Medicine Genetic variants that hinder post-translational protein modifications by UFM1, UFMylation, cause encephalopathies. UFMylation regulates endoplasmic reticulum (ER) homeostasis, but how UFMylation defic...

Fantastic new story out in @embo from @catarina and Marilyn Tirard's Lab showcasing the post-translational modifications by ubiquitin-like modifier Ufm1 in the regulation of morphology and translation in neurons. Happy to have contributed! 🤩

Link to the paper 👇🏻

link.springer.com/article/10.1...

24.02.2026 16:12 — 👍 5    🔁 3    💬 1    📌 0

Really happy to see this out! It was a wonderful collaboration.

25.02.2026 09:30 — 👍 1    🔁 0    💬 0    📌 0

Open questions we’re excited about:

• Which neuronal proteins are UFM1 targets?
• How do disease variants alter the neuronal translatome?
• Could modulating ER stress or translation be therapeutic?

Happy to discuss or hear ideas

25.02.2026 09:25 — 👍 0    🔁 0    💬 0    📌 0

Main finding:

Disrupting UFM1 causes defects in neuronal maturation and function:

neurons become smaller, less morphologically complex, and show reduced synaptic signaling. In parallel, we observe increased ER stress and UPR activation together with decreased protein synthesis.

25.02.2026 09:25 — 👍 0    🔁 0    💬 0    📌 0

What is UFM1?

UFM1 is a ubiquitin-like protein (UBL). Like ubiquitin, it modifies other proteins through conjugation, but its function in neurons is unknown.

Patients carrying UFM1 mutations develop severe neurodevelopmental disorders, so we wanted to understand what goes wrong at the cell level.

25.02.2026 09:24 — 👍 0    🔁 0    💬 0    📌 0
Preview
Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function - EMBO Molecular Medicine Genetic variants that hinder post-translational protein modifications by UFM1, UFMylation, cause encephalopathies. UFMylation regulates endoplasmic reticulum (ER) homeostasis, but how UFMylation defic...

New paper from our lab!

We studied UFM1, a ubiquitin-like modifier, and found it is essential for neuronal development and synapse function.

We also explore the cellular mechanisms that may underlie UFM1-associated encephalopathies.

Paper: doi.org/10.1038/s443...

A short thread ↓

25.02.2026 09:22 — 👍 1    🔁 0    💬 3    📌 0

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