DeBerardinis Lab at UT Southwestern Medical Center

DeBerardinis Lab at UT Southwestern Medical Center

@rjdlab.bsky.social

I still like small data but I'm not opposed to big data. We study #metabolism, #genetics, #pediatric inborn errors & cancer. Views are my own.

3.2K followers192 following175 posts

DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

Pleased to share a new paper with Ling Cai, demonstrating the use of population genomics to identify heterozygous variants in a cobalamin processing gene as a modulator of circulating vitamin B12 levels.

The American Journal of Human Genetics@ajhgnews.bsky.social

🧬New Research Letter! 📄MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort @rjdlab.bsky.social

cell.comMMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohortHeterozygous carriers of autosomal recessive disease variants are often considered clinically unaffected, yet population biobanks can reveal measurable carrier phenotypes. MMACHC (MIM: 609831) encodes...

DeBerardinis Lab at UT Southwestern Medical Center reposted

WredenbergLab
@wredenberglab.bsky.social

What does the newborn heart need to complete its metabolic transition? Check out our paper on mitoSAM import in the postnatal mouse heart. Great work by @anarum.bsky.social and collaborators @rjdlab.bsky.social, @trevortippetts.bsky.social. @ki.se , @kawresearch.bsky.social doi.org/10.1126/scia...

science.orgLoss of the mitochondrial SAM transporter reveals a lipoylation-dependent metabolic vulnerability in the postnatal heartThe neonatal heart experiences rapid metabolic growth after birth to meet increasing energetic and biosynthetic demands. How mitochondrial cofactor availability limits this transition remains unclear....

DeBerardinis Lab at UT Southwestern Medical Center reposted

Children's Research Institute at UT Southwestern
@cri-utsw.bsky.social

TODAY in @dallasnews.com: Read more about McBrayer Lab's #relentlessdiscovery in @science.org, with a cameo from CRI Genetic & Metabolic Disease Program Director @rjdlab.bsky.social 🧪

The Dallas Morning News@dallasnews.com

A new study from Dallas scientists suggests a mutated gene leads to severe neurological impairment, and points towards a potential treatment strategy.

bit.lyDallas scientists uncover mutated gene's role in rare brain disorderA new study from Dallas scientists suggests a mutated gene leads to severe neurological impairment, and points towards a potential treatment strategy.

DeBerardinis Lab at UT Southwestern Medical Center reposted

Children's Research Institute at UT Southwestern
@cri-utsw.bsky.social

We already thought @haozhulab.bsky.social hung the (liver-shaped) moon🌙 & now his #relentlessdiscovery is promulgated. Check out Chp 6, "When Our Bodies Autocorrect," p140 to read how somatic mutations could give us "hope." Great topic, @roxannekhamsi.bsky.social! 🧪 Watch out #booktok 🤓

Roxanne Khamsi@roxannekhamsi.bsky.social

This week marks the release of my book Beyond Inheritance 🎉 📖 . It tells the stories of patients with mysterious ailments who have been saved by doctors' new understanding of genetics. And how whales can teach us about preserving our DNA as we age. Available as book & audiobook: tinyurl.com/5yjsr97n

DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

I am so grateful for this honor - grateful to my mentors, lab, and family. Thank you @seanjmorrison.bsky.social for your support. And how great to be elected with some very good friends and two awesome UTSW colleagues, Elizabeth Chen and Joel Elmquist. Feeling very fortunate today.

Children's Research Institute at UT Southwestern@cri-utsw.bsky.social

🌟From the desk of @seanjmorrison.bsky.social: It's a great day for CRI, which now has 2 @nasonline.org members. Congratulations to @rjdlab.bsky.social and his laboratory on this recognition for the quality and impact of their work! #relentlessdiscovery 🧪 cri.utsw.edu/deberardinis...

cri.utsw.eduThree UT Southwestern faculty members elected to National Academy of SciencesThe National Academy of Sciences (NAS) today elected three UT Southwestern Medical Center scientists into its membership. Election to the NAS is one of the highest honors in the United States for Amer...
DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

This kind of stable, sustained support can transform a career: @hhmi-science.bsky.social's #FreemanHrabowski Scholars Program offers early career faculty up to $10M over 10 yrs, plus salary & benefits. Postdoc? This year's competition has a program for you too. Applications open 11/3! bit.ly/4vhC0LA

bit.lyEarly Career Faculty Program | Freeman Hrabowski Scholars | HHMIThe Freeman Hrabowski Scholars Program offers comprehensive support to outstanding early career faculty committed to scientific excellence in their own research, and to fostering labs that expand the ...
DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

#RareDiseaseDay2026: “think of zebras (rare diseases) when you hear hoofbeats.” On Feb 28, we wear stripes to recognize patients with rare diseases and support rare disease research in CRI and the McDermott Center at UT Southwestern. Thanks to the Rare Disease CoE for all you do for these patients.

DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

Great time in Boston, as always! Thanks for the invitation!

BIDMC Cancer Center@bidmc-cancercenter.bsky.social

Live from our Cancer Research Institute seminar: @rjdlab.bsky.social. His lab studies how oncogenic control of #metabolism impacts tumor growth and progression. Using isotope tracers, he assesses tumor metabolism in vivo and measures mitochondrial function in purine metabolism. #CancerResearch

DeBerardinis Lab at UT Southwestern Medical Center reposted

Children's Research Institute at UT Southwestern
@cri-utsw.bsky.social

ONLINE NOW in @pnas.org: Agathocleous Lab, collaborators discover why humans, some animals may need intermittent vitamin C deficiency: to survive parasite infections. 🧪 Read more ⬇️ cri.utsw.edu/loss-of-vita... #relentlessdiscovery

cri.utsw.eduLoss of vitamin C synthesis protects animals from schistosomiasis - Children's Medical Center Research Institute (CRI) | Dallas TexasAgathocleous Lab, collaborators discover vitamin C deficiency can benefit animals by depriving vitamin from parasitic worms DALLAS – Dec. 23, 2025 – Scientists at Children’s Medical Center Research In...

DeBerardinis Lab at UT Southwestern Medical Center reposted

Josh Mendell
@mendell-lab.bsky.social

Regulated decay of microRNAs plays a critical role in controlling body size in mammals! Check out our new paper in @genesdev.bsky.social and see thread previously posted with our pre-print 👇 for more info. Congrats to Collette LaVigne, Jaeil Han, and all authors! genesdev.cshlp.org/cgi/content/...

genesdev.cshlp.orgPlagl1 and Lrrc58 control mammalian body size by triggering target-directed microRNA degradation of miR-322 and miR-503 A biweekly scientific journal publishing high-quality research in molecular biology and genetics, cancer biology, biochemistry, and related fields
Josh Mendell@mendell-lab.bsky.social

I am pleased to present our latest pre-print describing our identification of the long-sought triggers for target-directed microRNA degradation (TDMD) of miR-322 and miR-503, work led by Collette LaVigne and Jaeil Han. For more info, read on! 👇 www.biorxiv.org/content/10.1...

biorxiv.orgPlagl1 and Lrrc58 control mammalian body size by triggering target-directed microRNA degradation of miR-322 and miR-503Precise control of microRNA (miRNA) expression is critical during development. An important mechanism of miRNA regulation is target-directed microRNA degradation (TDMD), a pathway in which the binding...
DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

Here's the beautiful paper from @chembiohub.bsky.social reporting NUDT5's role in purine synthesis. I cannot emphasize enough how gracious and open these authors were when we all realized we were working on the same mechanism.

ChemBioHub - Huber Lab@chembiohub.bsky.social

New in @science.org 🧬 What if an enzyme you thought you knew turned out to control metabolism in a completely new way? We found that NUDT5 acts as a molecular handbrake on purine synthesis, reshaping how cells make DNA building blocks and respond to cancer drugs. www.science.org/doi/10.1126/...

science.orgA non-enzymatic role of Nudix hydrolase 5 in repressing purine de novo synthesisFolate metabolism is intricately linked to purine de novo synthesis through the incorporation of folate-derived one-carbon units into the purine scaffold. By investigating chemical and genetic depende...
DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

17/NUDT5 is having a moment – see excellent work from other labs reporting roles for NUDT5 in purine metabolism. These include papers by Kilian Huber and Stefan Kubicek, also out today (see link), and work by Alexis Jourdain and Jun Yang (see next posts) www.science.org/doi/10.1126/...

science.orgA non-enzymatic role of Nudix hydrolase 5 in repressing purine de novo synthesisFolate metabolism is intricately linked to purine de novo synthesis through the incorporation of folate-derived one-carbon units into the purine scaffold. By investigating chemical and genetic depende...
DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

5/Zheng first examined data from a CRISPR screen performed by John Doench and David Root, designed to identify genes required for sensitivity to thiopurine chemotherapeutics like 6-thioguanine (6TG). pmc.ncbi.nlm.nih.gov/articles/PMC...

pmc.ncbi.nlm.nih.govOptimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9CRISPR-Cas9-based genetic screens are a powerful new tool in biology. By simply altering the sequence of the single-guide RNA (sgRNA), Cas9 can be reprogrammed to target different sites in the genome with relative ease, but the on-target activity ...
DeBerardinis Lab at UT Southwestern Medical Center
@rjdlab.bsky.social

2/The project arose from Zheng’s previous work reporting that mitochondrial dysfunction suppresses DNPB and induces salvage. Because salvage is required for growth of cells with mitochondrial defects, Zheng asked how cells switch off DNPB during salvage. www.sciencedirect.com/science/arti...

sciencedirect.comElectron transport chain inhibition increases cellular dependence on purine transport and salvageMitochondria house many metabolic pathways required for homeostasis and growth. To explore how human cells respond to mitochondrial dysfunction, we pe…