Mariano Martín
marianomartin.bsky.social
Mariano Martín
@marianomartin.bsky.social
Reposted by Mariano Martín
We are looking for a PhD student in (mostly )wet-lab biochemistry to work on short linear motifs, intrinsically disordered regions, in the context of the Marie Curie network "IDPro". More info an apply here: www.uu.se/en/about-uu/...
PhD student in Biochemistry - Uppsala University
PhD student in Biochemistry, Disciplinary Domain of Science and Technology, Faculty of Chemistry, Department of Chemistry - BMC, Uppsala University
www.uu.se
June 30, 2025 at 8:39 AM
Reposted by Mariano Martín
Solving the many mysteries of amyloids 🧩🧬, next up at #VariantEffect25: @marianomartin.bsky.social from @bennibolo.bsky.social Lab presents:
Deep mutagenesis reveals the interplay between RIPKs amyloid nucleation and protein activity
May 23, 2025 at 7:58 AM
Reposted by Mariano Martín
May 23, 2025 at 8:13 AM
Reposted by Mariano Martín
VSS people are always hungry for more heatmaps discussion! (and burgers!) #VariantEffect25
May 22, 2025 at 7:06 AM
Reposted by Mariano Martín
The first poster session just started! #VariantEffect25
May 21, 2025 at 11:39 AM
Reposted by Mariano Martín
Good morning #VariantEffect25! Kicking things off we have Mafalda Dias, @bennibolo.bsky.social @muffley.bsky.social welcoming us to this 8th annual symposium. We have 250 in-person participants, 60 people online, from 20 countries!
May 21, 2025 at 7:45 AM
Reposted by Mariano Martín
@marianomartin.bsky.social discussing amyloid formation from random sequence extensions at our first CNS 🧠network event @ibecbarcelona.eu
Find out more this week on @pnas.org!

www.pnas.org/doi/10.1073/...
May 9, 2025 at 3:00 PM
Proud to be part of this big collaborative effort!
We studied MCT8 deficiency via genomic, functional & deep learning integration.
🔗 www.nature.com/articles/s41...
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration - Nature Communications
Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (d...
www.nature.com
May 5, 2025 at 7:43 AM
Excited to share our latest in @SciAdvances! 🔍
We quantified ~100k sequences to train CANYA, an interpretable deep learning model for predicting amyloid formation.
🔗 www.science.org/doi/10.1126/...
Massive experimental quantification allows interpretable deep learning of protein aggregation
xAI trained on >100,000 random peptides predicts and elucidates primary sequence determinants of aggregation.
www.science.org
May 5, 2025 at 7:42 AM
Our new paper is out in PNAS! 🧪
We used deep mutational scanning & random extensions to uncover how Bri2 becomes amyloidogenic upon C-terminal extension.
🔗 www.pnas.org/doi/10.1073/...
Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension | PNAS
Stop-loss mutations cause over twenty different diseases. The effects of stop-loss mutations can have multiple consequences that are, however, hard...
www.pnas.org
May 5, 2025 at 7:40 AM
Reposted by Mariano Martín
🗓️ Mark your calendars! This is one not to miss!
www.varianteffect.org/seminar-series
January 24, 2025 at 2:36 PM
Reposted by Mariano Martín
Countdown has started! Excited to welcome you in Barcelona for the 8th Mutational Scanning Symposium #VariantEffect25
🌍 @ibecbarcelona.eu @crg.eu @varianteffect.bsky.social
events.ibecbarcelona.eu/mutational-s...
January 24, 2025 at 3:49 PM