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Mariela Cortés López

@altspliced.bsky.social
487 followers 705 following 9 posts

Alternative splicing on alternative music. PI at @comphealthmunich.bsky.social & CCRC Hauner (LMU) #SingleCell #LongReads #RNA 🇲🇽 📍 Munich www.helmholtz-munich.de/en/icb/mari… www.songkick.com/users/alt_spliced

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Mariela Cortés López @altspliced.bsky.social · 23/02/2026
I’m happy to share that since January, I have started my lab at the @comphealthmunich.bsky.social & Hauner CCRC (LMU) 🎉 We aim to combine single-cell, long-reads, computational modeling, and functional genomics to understand RNA-driven regulation in pediatric diseases.
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Leo Schärfen @leoschaerfen.bsky.social · 10/11/2025
Check out our work on RNA structure in introns! Testing >100k base pairing patterns, we found that RNA structure can predictably tune gene expression. Just by changing intron sequence, we see a dynamic range of regulation comparable to messing e.g. with promoters. @karlaneugebauer.bsky.social
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Nicolas Robine 🇪🇺🇫🇷🇺🇸 @nicorobine.bsky.social · 06/08/2025
We'll have to do a "March for mRNA" 🤦‍♂️
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David A Knowles @davidaknowles.bsky.social · 29/07/2025
Excited for this to be out officially! It was a great team effort and has a lot of useful tidbits for studying isoform function. www.nature.com/articles/s41...
nature.com
Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox - Nature Communications
The majority of human genes can produce multiple isoforms, but studying their functional relevance requires tools to target specific isoforms. Here, the authors develop a CRISPR-based exon-exon juncti...
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Rebecca Berrens @rberrens.bsky.social · 16/07/2025
Very happy to share our protocols paper for CELLO-seq. This will make single cell long read RNA-seq more accessible and provides analysis guidelines. We hope this helps the #transposon #TEsky community and folks working on #singleCell isoform and allelic #gene expression. doi.org/10.1038/s415...
doi.org
Long-read RNA sequencing of transposable elements from single cells using CELLO-seq - Nature Protocols
Single-cell long-read RNA sequencing enables the high-fidelity mapping of single-cell expression data from highly sequence-similar transposable elements to unique genomic loci by correcting errors fro...
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bioRxivpreprint @biorxivpreprint.bsky.social · 06/07/2025
A comparison of long-read single-cell transcriptomic approaches www.biorxiv.org/content/10.1101/202…
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David A Knowles @davidaknowles.bsky.social · 03/07/2025
New work from the lab trying to wrap our heads around the massive complexity of the human transcriptome revealed by long-read RNA-seq! Fun collab with Gloria Sheynkman. www.biorxiv.org/content/10.1...
biorxiv.org
Perplexity as a Metric for Isoform Diversity in the Human Transcriptome
Long-read sequencing (LRS) has revealed a far greater diversity of RNA isoforms than earlier technologies, increasing the critical need to determine which, and how many, isoforms per gene are biologic...
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Nature Reviews Genetics @natrevgenet.nature.com · 02/07/2025
Evolution of splicing model architectures go.nature.com/4eweliE Figure from our recent Review: From computational models of the splicing code to regulatory mechanisms and therapeutic implications (free to read here: rdcu.be/dVNV4)
a, Early models built sequence motifs to describe the consensus sequences of individual core splicing elements, such as splice sites (SSs) and intronic and/or exonic enhancers and silencers. Statistical and machine-learning models were built to output the probability of a novel sequence acting as a core splicing element. The sequence logos shown for 5′SS and 3′SS were generated from Human hg38 RefSeq annotations (code available at https://www.github.com/ulelab/splicelogos). b, As our understanding of splicing mechanisms progressed, expert-selected features were extracted from sequences and used to train integrative models to predict splicing outcomes. c, With the advent of deep-learning, models could jointly learn features directly from raw sequence input. Although theoretically, sequence context could be as large as shown in part d, in practice smaller windows of up to 30 kb have been used. d, Supervised models with convolutional and transformer layers produce multimodal genome-wide data. These models use a much larger sequence context and can predict genome-wide data including RNA sequencing coverage, which can be further processed to evaluate splicing. e, By learning how to reconstruct partially masked genomic sequences across multiple species, self-supervised masked language models capture evolutionarily conserved sequence elements and their functional context in a very generic and flexible fashion. The informative numerical representations obtained by large language models can be used for splicing prediction tasks. Here 3′SS within different sequence contexts from multiple species are shown aligned for easier interpretation, but in practice sequences do not have to be aligned. Current masked language models with application to splicing use variable context windows from 1,000 to 1 million base pairs; however, it is currently unclear whether larger context windows confer better performance
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Mariela Cortés López @altspliced.bsky.social · 19/06/2025
Great day to share this op-ed we co-authored with other international postdocs, highlighting the struggle of doing science under an increasingly hostile political climate, while also fighting for fairer working conditions at WCM: medium.com/@alt_spliced...
medium.com
International researchers are fighting for stability in troubled times
We are a group of international scholars at Weill Cornell Medicine (WCM) who moved to New York City to conduct cutting edge research that…
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nycrnasymposium.bsky.social @nycrnasymposium.bsky.social · 20/05/2025
Save the Date: 2025 NYC RNA Symposium — Tuesday, October 21, 2025 more @ www.nycrnasymposium.com
nycrnasymposium.com
Home | Nycrnasymposium
Register for the inaugural NYCRNASymposium. Come share your RNA research in NYC!
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Nature Biotechnology @natbiotech.nature.com · 23/04/2025
Treatment of acute myeloid leukemia models by targeting a cell surface RNA-binding protein - @raflynn5.bsky.social go.nature.com/3YbT1In
go.nature.com
Treatment of acute myeloid leukemia models by targeting a cell surface RNA-binding protein - Nature Biotechnology
An RNA-binding protein on leukemia cells provides an effective target in mouse models.
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Mark Dawson @mafdawson.bsky.social · 02/01/2025
Why can a human tolerate a drug that globally inhibits transcription? Why do transcription inhibitors not cure cancer? Our first paper of 2025 may help explain (some) of this! So incredibly proud of @tobiaswilliams.bsky.social & Ewa Michalak who led the work! www.cell.com/molecular-ce...
cell.com
mRNA export factors store nascent transcripts within nuclear speckles as an adaptive response to transient global inhibition of transcription
Transcription inhibitors also disrupt nuclear export. Here, Williams et al. reveal that mRNA export factors sense transcription inhibition and adapt by storing mature export-competent mRNA in nuclear speckles. This enables rapid release when transcription resumes and ensures retention of cellular identity and viability during a transient global transcription insult.
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albinsan.bsky.social @albinsan.bsky.social · 07/04/2025
Very proud to share this work just out in NAR: spearheaded by @jamieauxillos.bsky.social and Arnauld Stigliani: TLDR-seq, a method for 5’ to 3’ end long-read sequencing of capped RNAs regardless of 3’ end polyadenylation, based on the @nanoporetech.com platform. (1/4) tinyurl.com/3c2ksdmr
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Kristoffer Vitting-Seerup @kvittingseerup.bsky.social · 02/04/2025
The Genetics research community has a problem. Most recent articles do not consider #splicing/isoforms. Here, we analyze how important this opportunity gap is - and spoiler warning - we find it is essential for both analysis of common and rare variants More info👇 www.medrxiv.org/content/10.1...
medrxiv.org
Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation
Genetics is rapidly deepening our understanding of human health and disease by investigating common and rare genetic variants and their influence on gene expression1,2. Alternative splicing is a molec...
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Aaron and the Hoskins Lab at UW Madison @uwmadisonrna.bsky.social · 01/04/2025
New work on human U2 snRNA variants (incl. mutations associated with cancer) from the Query lab! www.biorxiv.org/content/10.1...
biorxiv.org
U2-2 snRNA Mutations Alter the Transcriptome
Intron removal from pre-mRNA is catalyzed by the spliceosome, which comprises 5 snRNPs containing small nuclear RNAs (snRNAs). U2 snRNA makes critical RNA-RNA and RNA-protein contacts throughout the s...
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Ana Conesa @anaconesa.bsky.social · 28/03/2025
I am so happy to see this manuscript finally out!!! We review and discuss all analysis steps in long reads transcriptomics. Hope the community finds this useful! Hugo thanks to @carolinamonzo.bsky.social and @tianyuanliu.bsky.social for the huge work!!! @longtrec.bsky.social @hitseq.bsky.social
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David Ho @davidho.bsky.social · 14/03/2025
With the attacks on science and academia by the current administration, if those of us who have tenure don't speak up, it's really hard to continue justifying the tenure system based on academic freedom.
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Mariela Cortés López @altspliced.bsky.social · 26/02/2025
Love this!
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Mike Feigin 🥯 @mikefeigin.bsky.social · 26/02/2025
All those asking about a Stand Up For Science event in NYC, here you go! www.eventbrite.com/e/stand-up-f...
eventbrite.com
Stand Up for Science 2025 - NYC
Stand up for science with us on March 7th, 2025, because science is for everyone! More info at www.standupforscience2025.org
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Irene Beusch @pauletteoctopus.bsky.social · 07/02/2025
Still a bit more than a week left to apply! PhD opportunity in the Beusch lab. Please share to anyone interested in RNA biology 🧪 #RNAsky #RNAbiology
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John Prensner @johnprensner.bsky.social · 02/02/2025
Looking to see how #RiboSeq can improve your cancer research? Check out how we've been developing new methods to study #medulloblastoma and other forms of #childhoodcancer. Out in @naturecomms.bsky.social now. Thanks to Jim Clauwaert and Gerben Menschaert as well! www.nature.com/articles/s41...
nature.com
Deep learning to decode sites of RNA translation in normal and cancerous tissues - Nature Communications
RNA translation is a core cell process that is deregulated in cancer. Here, the authors show that a machine learning approach, RiboTIE, can reconstruct RNA translation in cancer and non-cancer cells. ...
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Leif S. Ludwig @leifludwig.bsky.social · 31/01/2025
Join us to connect with the vibrant #singlecell community. 📢Register for the #ISCO'25 Conference "Innovations in #SingleCell #OMICS" in Berlin! 🗓️ 12-13 May 2025 🎤 Fantastic Keynote and Invited Speakers 🫵🏿 Many slots for talks: submit your abstract 🔗http://isco-conference.eu Please spread the word!
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Sonia Garcia-Ruiz @soniagr.bsky.social · 27/01/2025
New in @naturecomms.bsky.social: I'm thrilled to share with you our latest work that applies #srRNAseq to understand splicing accuracy across human introns, tissues and in the context of ageing and neurodegeneration www.nature.com/articles/s41...
nature.com
Splicing accuracy varies across human introns, tissues, age and disease - Nature Communications
Inaccuracies in RNA splicing may play a significant role in aging and disease. Here, the authors present a comprehensive characterization of splicing accuracy across over 14,000 human samples, offerin...
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Mariela Cortés López @altspliced.bsky.social · 29/01/2025
I am happy to share that today I got my NOA for the #NCI Early K99/R00! This will support our ongoing efforts to understand RNA splicing impact in cancer phenotypes using single cell multi-omics. Some good news around all this chaos 💫
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Maggie Arriaga @maggie-arriaga.bsky.social · 07/01/2025
What if one variant can cause splicing outliers transcriptome-wide? In our preprint, we show how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover novel disease-gene relationships! (www.medrxiv.org/content/10.1...)
medrxiv.org
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting va...
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ThePatrick&WatsonLabs @thepwlab.bsky.social · 04/12/2024
My attempts to use the term "immunospliceosome" in a grant went over like a lead balloon, but maybe "immunoribosome" will gain some traction. This is a SUPER exciting finding, kudos to the authors: www.cell.com/action/showP...
cell.com
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Uwe Ohler @uweohler.bsky.social · 04/12/2024
#paperalert! In our new study, we ask the question: Can we predict RNA stability across conditions and protocols, based solely on experimental and/or computationally predicted RNA binding protein target sites? Read the paper to find out ! www.biorxiv.org/content/10.1...
biorxiv.org
Cell-type specific prediction of RNA stability from RNA-protein interactions
RNA-binding proteins (RBPs) are important contributors to post-transcriptional regulatory processes. The combinatorial action of expressed RBPs and non-coding factors bound to the same transcript dete...
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Tomàs Montserrat Ayuso @tmontsay.bsky.social · 03/12/2024
Not checking nuclear markers like MALAT1 or intronic reads in your scRNA-seq data?🚨 We show their power to flag low-quality cells—even in top public datasets. It’s time to prioritize better QC for cleaner, more reliable genomics research! Read more: bmcgenomics.biomedcentral.com/articles/10.... 1/8
bmcgenomics.biomedcentral.com
High content of nuclei-free low-quality cells in reference single-cell atlases: a call for more stringent quality control using nuclear fraction - BMC Genomics
The advent of droplet-based single-cell RNA-sequencing (scRNA-seq) has dramatically increased data throughput, enabling the release of a diverse array of tissue cell atlases to the public. However, we...
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Markus Landthaler @landthalerm.bsky.social · 21/11/2024
Interesting findings by the Zarnack and König labs: www.cell.com/molecular-ce... #RNAbiology
cell.com
m6A sites in the coding region trigger translation-dependent mRNA decay
Zhou et al. discovered a specific role of adenosine modifications in the coding region of mRNAs. These chemical alterations slow down the movement of the ribosome during translation and trigger degrad...
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Cristian Prieto-Garcia @prieto-garcia.bsky.social · 15/11/2024
It is finally out! My first Science paper is online and it does not seem real😃. I am Incredibly happy! Really thanks to all my coauthors and special mention to my incredible supervisor Ivan Dikic for all the support and trust ! 🫶. #RNA #Proteostasis #ubiquitin #autophagy #RP doi.org/10.1126/scie...
doi.org
Pathogenic proteotoxicity of cryptic splicing is alleviated by ubiquitination and ER-phagy
RNA splicing enables the functional adaptation of cells to changing contexts. Impaired splicing has been associated with diseases, including retinitis pigmentosa, but the underlying molecular mechanis...
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Mariela Cortés López @altspliced.bsky.social · 16/11/2024
#RNAFriday event with the amazing Katarin Karikó!
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Boris Lenhard @borislenhard.bsky.social · 15/11/2024
A tutorial on our new paper on the origin and dynamics of recapped mRNA fragments in mammalian cells, by the study lead, @nejchaberman.bsky.social . Feedback is welcome!
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bioRxivpreprint @biorxivpreprint.bsky.social · 15/11/2024
Photoaffinity enabled transcriptome-wide identification of splice modulating small molecule-RNA binding events in native cells www.biorxiv.org/content/10.1101/202…
biorxiv.org
Photoaffinity enabled transcriptome-wide identification of splice modulating small molecule-RNA binding events in native cells https://www.biorxiv.org/content/10.1101/2024.11.14.623654v1
Splice modulating small molecules have been developed to promote the U1 snRNP to engage with pre-mRN
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bioRxivpreprint @biorxivpreprint.bsky.social · 22/09/2023
Detecting Differential Alternative Splicing in Mass Spectrometry-based Proteomics Data www.biorxiv.org/content/10.1101/202…
biorxiv.org
Detecting Differential Alternative Splicing in Mass Spectrometry-based Proteomics Data https://www.biorxiv.org/content/10.1101/2023.09.19.558203v1
Alternative splicing can substantially diversify biological cell states and influence cellular funct
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