Great The Scientist piece: two harmful mutations can restore protein function—challenging how we view genetic risk. I share my take on the structural logic behind this and relevance to drug discovery. My perspective www.the-scientist.com/two-harmful-... Original study www.pnas.org/doi/10.1073/...

Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

Targeting multiple genetic defects of mitochondrial diseases with a single bacterial lipoate protein ligase | Science Advances www.science.org/doi/full/10....

Loss of MFE-2 impairs microglial lipid homeostasis and drives neuroinflammation in Alzheimer’s pathogenesis @nataging.nature.com www.nature.com/articles/s43...

Hi friends and colleagues. In these dark times for scientists and experts, I am trying to make a difference by running the NYC marathon for the propionic acidemia foundation. Please click on the link if you’re interested. fundraisers.nyrr.org/sander-houten Thanks for considering.

When 2 life science discoveries converge: solving a ~3 decade mystery of extraordinary longevity and healthspan + an essential cell danger sensor And related ongoing clinical trials! erictopol.substack.com/p/a-long-awa...

Ooohhh....GCN1 couples GCN2 to ribosomal state to initiate amino acid response pathway signaling | Science www.science.org/doi/10.1126/...

Are #InheritedMetabolicDisorders more common than we think? New review argues genotype-first data reveal IMDs in many “healthy” individuals — challenging assumptions about prevalence, penetrance & screening. What should this mean for clinical care? #ThinkMetabolic #Genomics

Genetic suppression features ABHD18 as a Barth syndrome therapeutic target | Nature www.nature.com/articles/s41...

Hi friends and colleagues. In these dark times for scientists and experts, I am trying to make a difference by running the NYC marathon for the propionic acidemia foundation. Please click on the link if you’re interested. fundraisers.nyrr.org/sander-houten Thanks for considering.

Belangrijk initiatief!! www.volkskrant.nl/politiek/d66...

My lab at ETHZ has an opening for a postdoc in spatial risk stratification: www.jobs.ethz.ch/job/view/JOP.... Please apply if suitable, or RT, thanks!

Apparently I have been checking my Google Scholar profile too often 🙃 Anybody any idea why google think I am sending automated queries?

#Throwback 🧪 COMMENT | A safety guide for transgenic Cre drivers in metabolism C Horvath, C Wolfrum & P Pelczar

Interesting, but puzzling www.nature.com/articles/s41...

🧪 Can cholic acid be personalised for bile acid synthesis defects? New open-label study explores long-term CA therapy in AMACR & 3β-HSD deficiency. 👶 Good response in children 🧓 More side effects, less benefit in adults ⚠️ Toxic intermediates persist Read: doi.org/10.1002/jimd...

Excited to share Chapter #1 of our LPCAT3 journey in adipose biology and membrane dynamics—born of a rewarding, years-long, espresso-fueled partnership with Prof. Yuta Shimanaka @shimachu64.bsky.social. www.nature.com/articles/s42...

🎉 5 years of the JIMD Podcast! 🎉 Since June 2020: 🎙️ 133 interviews 📚 51+ hours of IMD content 🌍 Listeners in 100+ countries Plus spin-offs: Shortcast Metabolic Mysteries Footprints of IMD Research Round-Up Thanks to every guest & listener. Here’s to 5 more years! 🔗 soundcloud.com/user-109006120

La ECI1 mitocondrial y la ECI2 peroxisómica tras llevar a cabo la isomerización del Δ³‑cis‑enoil‑CoA:

🧵5 Top Free Alternatives to BioRender for Scientific Illustrations! These five websites offer free scientific illustrations for biologists. Great for presentations, research papers and other research communication needs. Save and share the post!

RESEARCH| J Okada, A Landgraf, S Sidoli, J Pessin et. al. (‪@einsteinmededu.bsky.social‬) Single-cell analyses demonstrate the spatiotemporal plasticity of hepatocyte gluconeogenesis

🔬 A novel multiomic network strategy to uncover disease-modifying mechanisms in inborn errors of metabolism! 🧬 Glucocorticoid & complement signaling revealed as modifiers of FAO disorders and Gaucher disease. 📄 Read in @JIMDjournal: doi.org/10.1002/jimd... #RareDisease #SystemsBiology #IEM

Very excited to share our latest work, “Mitochondrial presequences harbor variable strengths to maintain organellar function,” led by the fantastically talented @washubbsb.bsky.social graduate student Youmian Yan. A 🧵 www.biorxiv.org/content/10.1...

Fascinating new publication in JIMD Reports, detailing the use of modified cornstarch and pancreatic enzyme to achieve metabolic stability in an infant affected by a previously unreported, severe OXCT1 gene deletion leading to SCOT deficiency. Read it here 👉 doi.org/10.1002/jmd2...

Thanks @mitodynamics.bsky.social for the fun interview and for saying it like it is: “…JCS and other community journals are being crushed by the mega profit-making journals, which just seem to proliferate and spit out new journals by the day…we must all make an effort to move away from this…”

Non-profit journals are on the critical list. The cause: academics obsession with the Nature brand, coupled with the APC $ model. Some will argue it doesn’t matter (“all as bad as each other”). But the fact is undeniable and it’s good guys who put money back into science like COB who are losing..

I remember simpler times. www.dutchnews.nl/2013/02/amst...

Looks like a cool study.

Online now: Direct microglia replacement reveals pathologic and therapeutic contributions of brain macrophages to a monogenic neurological disease

With #NKH, severity is tricky to predict, and can’t be predicted from birth/initial presentation. Some children don’t reach milestones past that of a newborn. It's heartbreaking. May 2nd is #NKHAwarenessDay - please donations for a cure: www.justgiving.com/page/nkhawar... #glycineencephalopathy

Nonketotic Hyperglycinemia (NKH) is a rare disorder in children, where they can't process glycine. It's is a brutal disorder. May 2nd is #NKHAwarenessDay - swap your coffee for a donation towards NKH Research: justgiving.com/page/nkhawarenessday2025 ⁣ #nkhawareness #nonketoticHyperglycinemia #NKH

Interesting for those working on nonketotic hyperglycinemia.

Propionic Acidemia is an inborn error of metabolism. It is a rare genetic disease that is included in newborn screening programs around the world. Individuals with propionic acidemia need improved treatment and a cure.

Groundbreaking study in Cell from @leventallab.bsky.social: phospholipid asymmetry is a defining feature of the plasma membrane and cholesterol fills the holes — major implications for how this membrane works. A #lipidtime must-read! www.cell.com/cell/abstrac...

Federal Court Vacates FDA Rule on Laboratory-Developed Tests www.genomeweb.com/clinical-lab...

My favorite science is the kind that makes you says, "Man, I wish I thought of that!" This is such a paper. Mass action turns an eraser into a pen. HDACs are metabolite-dependent histone acyltransferases. @dremilygoldberg.bsky.social @gburslem.bsky.social www.nature.com/articles/s41...

Running a genetic stop sign accelerates oxygen metabolism and energy production in horses | Science www.science.org/doi/10.1126/...

Excellent paper by Weixiang Guo's group on the role of astrocytes in the pathophysiology of pyridoxin-dependent epilepsy due to ALDH7A1 deficiency. pubmed.ncbi.nlm.nih.gov/39980193/

Excellent paper by Weixiang Guo's group on the role of astrocytes in the pathophysiology of pyridoxin-dependent epilepsy due to ALDH7A1 deficiency. pubmed.ncbi.nlm.nih.gov/39980193/

Francis Collins, the NIH Director for 12 years, led the Human Genome Project and other NIH efforts for 32 years, resigned today. Key words from his resignation letter www.nytimes.com/2025/03/01/u...

"A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism" from @sanderhouten.bsky.social lab www.biorxiv.org/content/10.1...

After the first measles death of a child HHS Secretary Kennedy seemed to downplay the Texas outbreak saying outbreaks were "not unusual," and the 18 kids hospitalized were "mainly for quarantine." A pediatrician on the ground said they couldn't breathe. www.nbcnews.com/health/healt...

Sad milestone: As of today more than half of scheduled study sections this year did not meet as scheduled. Sections not meeting as scheduled today (2/26): BCO, CIHB, HHD, LHB, MABS, PMDA, TAG, CDIN, MPPA, ZRG IIDB-F. As of now, the NIH has no new postings to the Federal Register since 01/21/25.

I haven't been posting often on Bluesky. And the skies are not so blue these days in the US science world. One thing we can certainly do is to show that our work is important and contributes to progress in science. Two studies that my lab contributed to were posted on bioRxiv over the last 2 weeks.

I haven't been posting often on Bluesky. And the skies are not so blue these days in the US science world. One thing we can certainly do is to show that our work is important and contributes to progress in science. Two studies that my lab contributed to were posted on bioRxiv over the last 2 weeks.

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism https://www.biorxiv.org/content/10.1101/2025.02.19.639093v1

Odd-chain dicarboxylic acid feeding recapitulates the biochemical phenotype of glutaric aciduria type-1 in mice https://www.biorxiv.org/content/10.1101/2025.02.13.637994v1