Mohonk. Jealous.

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]

Picture of a goat cheese named Spring Koe

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

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...

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...

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.

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

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 - 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...

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.

A Long-Awaited Longevity Mystery Solved Spotlighting an essential human biologic pathway targeted by drugs in clinical trials

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...

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...

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 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.

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

I’m traveling for a conference and got stuck at Vancouver airport. So did my training on the treadmill.

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.

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...

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

Postdoctoral Researcher - Spatial Omics for Colorectal Cancer Risk Stratification

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!

Google Scholar saying "We're sorry... ... but your computer or network may be sending automated queries. To protect our users, we can't process your request right now."

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

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.

#Throwback 🧪

COMMENT | A safety guide for transgenic Cre drivers in metabolism

C Horvath, C Wolfrum & P Pelczar

Just have a beer.

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...

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...

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.

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!

Spatial hepatocyte plasticity of gluconeogenesis during the metabolic transitions between fed, fasted and starvation states - Nature Metabolism The authors use single-cell analyses to demonstrate the spatiotemporal plasticity of hepatocyte gluconeogenesis, highlighting the complexity of hepatic glucose homeostasis across states of feeding, fasting and starvation.

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