PSA: Summer is a tough time for the blood supply as regular donors are traveling and schools (where drives occur) are out. At the same time, accidents requiring massive transfusion are more common. Only 3% of the population donates yet any of us could be in need someday. Donate if you can!

🕵️ A 2-year-old with acute episodes of dystonia. Symmetrical basal ganglia abnormalities on MRI. What would you investigate next? Dr Luisa Averdunk works through the latest Metabolic Mystery. Can you solve the case before the reveal? podcasts.apple.com/gb/podcast/j...

When an Eppendorf falls and you look for it under the -80

East River moments ago.

Very happy to share our new paper. Together with our wonderful collaborators, we found that L-2-HG, a metabolite often viewed as “toxic,” also has an essential physiological function in mice. www.nature.com/articles/s41...

Mitochondrial l-2-hydroxyglutarate is a physiological signalling metabolite - Nature

l-2-Hydroxyglutarate is identified as a legitimate physiological signalling metabolite, and control of its levels is essential for postnatal growth and survival and correct renal development and funct...

nature.com

#RIP Pierre Chambon (1931-2026) via @alainberetz.bsky.social one of the last giants in biology: PARP, nuclear receptors, RNA Pol II, nucleosome, promoters, split genes

Our paper is now out in Science! Super excited to share our discovery that #mitochondria #pearling is the elusive mechanism driving the regular distribution and inheritance of #mtDNA nucleoids 🧬 [1/6]

I have to share this, it’s just too funny/egregious.

Last 2 weeks of literature on #Mitochondria in #Health & #Disease! 🤍 💚 biomed.news/bims-mitdis/... biomed.news/bims-mitdis/... @biomednews.bsky.social @mitoscientist.bsky.social @gavinmcstay.bsky.social Vit B2 and B3 nutrigenomics reveals a therapy for NAXD disease www.cell.com/cell/fulltex...

Vitamin B2 and B3 nutrigenomics reveals a therapy for NAXD disease

A nutrigenomics framework identifies genetic diseases amenable to vitamin B2 and B3 therapies. This approach nominates vitamin B3 as a therapy for NAXD deficiency, a lethal neurodevelopmental disorder...

cell.com

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/...

Two Harmful Variants Can Restore Protein Function

Researchers found that paired pathogenic variants can restore protein function rather than make it worse. This phenomenon could occur in four percent of human genes.

the-scientist.com

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....

Targeting multiple genetic defects of mitochondrial diseases with a single bacterial lipoate protein ligase

One bacterial enzyme LplA or LplJ rescues multiple lethal genetic defects in mitochondrial diseases.

science.org

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

Loss of MFE-2 impairs microglial lipid homeostasis and drives neuroinflammation in Alzheimer’s pathogenesis - Nature Aging

Gao, Bai and colleagues identify peroxisomal MFE-2 as an essential regulator for microglial homeostasis in Alzheimer’s disease, showing that maintaining MFE-2 reduces neuroinflammation and slows Alzhe...

nature.com

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...

A Long-Awaited Longevity Mystery Solved

Spotlighting an essential human biologic pathway targeted by drugs in clinical trials

erictopol.substack.com

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

GCN1 couples GCN2 to ribosomal state to initiate amino acid response pathway signaling

During nutrient deprivation, activation of the protein kinase GCN2 regulates cell survival and metabolic homeostasis. In addition to amino acid stress, GCN2 is activated by a variety of cellular stres...

science.org

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...

Genetic suppression features ABHD18 as a Barth syndrome therapeutic target - Nature

The enzyme ABHD18 is shown to have a key role in cardiolipin metabolism in mitochondria, offering a potential route for a small-molecule treatment of the rare genetic disease Barth syndrome.

nature.com

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...

D66 en GL-PvdA dienen wetsvoorstel in om Nederlanders het recht op een dubbele nationaliteit te geven

Nederlanders moeten het recht krijgen om hun Nederlanderschap te behouden als zij vrijwillig een andere nationaliteit aannemen. D66 en GroenLinks-PvdA dienen woensdag een initiatiefwet in om dat recht...

volkskrant.nl

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!

Postdoctoral Researcher - Spatial Omics for Colorectal Cancer Risk Stratification

jobs.ethz.ch

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

A safety guide for transgenic Cre drivers in metabolism - Nature Metabolism

Despite the high utility and widespread use of Cre driver lines, lack of Cre specificity, Cre-induced toxicity or poor experimental design can affect experimental results and conclusions. Such pitfalls must be considered before embarking on any Cre-based studies in metabolic research.

bit.ly

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

Lipoyl deglutarylation by ABHD11 regulates mitochondrial and T cell metabolism - Nature Chemical Biology

Glutarate rewires cell metabolism through conjugation to proteins or fatty acids, but how glutarylation is regulated is unclear. ABHD11 was identified as a lipoyl-deglutarylase to maintain the TCA cyc...

nature.com

🧪 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...

Dietary control of peripheral adipose storage capacity through membrane lipid remodelling - Nature Metabolism

Dietary n-6 PUFAs enhance adipose tissue expandability through the PPARγ–LPCAT3 membrane remodelling axis.

nature.com

🎉 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: