Mariano Martín
@marianomartin.bsky.social
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Mariano Martín
Ylva Ivarsson
3 months ago
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/...
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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
https://www.uu.se/en/about-uu/join-us/jobs-and-vacancies/job-details?query=836489
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Mariano Martín
Jonathan Frazer
4 months ago
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
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Mariano Martín
Isabelle Zane
4 months ago
@marianomartin.bsky.social
at
#VariantEffect25
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Mariano Martín
Marta Badia Graset
4 months ago
VSS people are always hungry for more heatmaps discussion! (and burgers!)
#VariantEffect25
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Mariano Martín
IBEC | Institute for Bioengineering of Catalonia
4 months ago
The first poster session just started!
#VariantEffect25
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Mariano Martín
Jonathan Frazer
4 months ago
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!
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Mariano Martín
Benedetta Bolognesi
5 months ago
@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/...
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Proud to be part of this big collaborative effort! We studied MCT8 deficiency via genomic, functional & deep learning integration. 🔗
www.nature.com/articles/s41...
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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...
https://www.nature.com/articles/s41467-025-56628-w
5 months ago
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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/...
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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.
https://www.science.org/doi/10.1126/sciadv.adt5111
5 months ago
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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/...
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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...
https://www.pnas.org/doi/10.1073/pnas.2415521122
5 months ago
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Mariano Martín
Atlas of Variant Effects Alliance
8 months ago
🗓️ Mark your calendars! This is one not to miss!
www.varianteffect.org/seminar-series
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Mariano Martín
Benedetta Bolognesi
8 months ago
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...
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