Curiosity underlies a breakthrough in rare disease
We must recognise and protect the pipelines that lead from research to real-world benefit
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
29.05.2025 08:44 — 👍 18 🔁 9 💬 0 📌 1
@lindorfflarsen.bsky.social at #VariantEffect25
23.05.2025 08:46 — 👍 22 🔁 5 💬 0 📌 1
Comprehensive degron mapping in human transcription factors
Gene expression is regulated by the targeted degradation of transcription factors through the ubiquitin-proteasome system. Transcription factors destined for degradation are recognized by E3 ubiquitin...
With the @lindorfflarsen.bsky.social group we present our map of degrons in all human transcription factors, incl. examples of constitutive degrons in exposed regions & buried degrons that are exposed upon mutation. In addition, we show that most TADs overlap with degrons. Work led by Fia Larsen.
18.05.2025 04:59 — 👍 26 🔁 7 💬 0 📌 1
A complete map of human cytosolic degrons and their relevance for disease
Degrons are short protein segments that target proteins for degradation via the ubiquitin-proteasome system and thus ensure timely removal of signaling proteins and clearance of misfolded proteins fro...
In collaboration with the @lindorfflarsen.bsky.social group we release our map of degrons in >5,000 human cytosolic proteins with >99% coverage. A machine learning model trained on the data identifies missense variants forming degrons in exposed & disordered regions. Work led by @vvouts.bsky.social.
15.05.2025 11:56 — 👍 18 🔁 8 💬 0 📌 1
We are looking for a PhD student with interest in protein biochemistry on a really cool project “Cooperation of deubiquitinating enzymes and VCP/p97 in cellular stress responses”. Build your own reactions! fully funded. apply with code 193-25. #ubiquitin
23.04.2025 21:56 — 👍 4 🔁 5 💬 0 📌 0
... wait! There's more great Review content!
☘️ mechanisms of #SAM homeostasis (Ben Tu et al)
☘️ glucose sensing by #glucokinase and how disease variants impact its function @sarahgersing.bsky.social @lindorfflarsen.bsky.social @rhp-lab.bsky.social
06.03.2025 16:43 — 👍 2 🔁 1 💬 1 📌 1
Now online - the Review "#Glucokinase: from allosteric glucose sensing to disease variants" from @sarahgersing.bsky.social, Torben Hansen, @lindorfflarsen.bsky.social, and @rhp-lab.bsky.social.
#GlucoseHomeostasis #GlucoseSensor #GCKMODY #CooperativeKinetics
authors.elsevier.com/a/1kN5M3S6Gf...
03.01.2025 16:40 — 👍 9 🔁 4 💬 1 📌 0
Happy to share our review, 'Glucokinase: from allosteric glucose sensing to disease variants', published in @cp-trendsbiochem.bsky.social, which explores the fascinating enzyme glucokinase. authors.elsevier.com/a/1kN5M3S6Gf...
02.01.2025 19:35 — 👍 20 🔁 2 💬 1 📌 1
When does the “fell from a window” phase start?
I Hate fascists. I don’t follow crypto weirdos.
Atheist. Anti incel.
I swear. Sometimes a lot.
Left leaning Canadian! 🇨🇦
BLM!!
Live and let live. Please do not DM me: Instablock.
Neurobiologist @UofSC 🔬 Super-resolution #microscopy, synaptic plasticity, cytoskeleton, #neurodegeneration 🦠
That maths guy from the internet.
Science writer and author of books including Bright Earth, The Music Instinct, Beyond Weird, How Life Works.
Theoretical Physicist.
(She/her/hers)
From Eastern KY.
Brad Stuver’s Favourite Unbiased Scottish Commentator since 1966 https://youtube.com/@mckallaster
Protein scientist in Copenhagen
Founder & CEO @jura.bsky.social | Full-stack probabilistic machine learning for the development of genetic medicines | NYC & Basel & Boston
Journalist / Foredragsholder / Publicist - driver #denlillegrønneavis m 100K⬆️ (Instagram) - klar til at flytte væk fra Meta♻️👩🏻🌾🌳 #climatecrisis #sustainability #biodiversity #activsm #sdg #gardening #food
Incoming assistant professor of chemistry at the Technical University of Denmark (DTU). Also at Jura Bio. machine learning, statistics, chemistry, biophysics
https://eweinstein.github.io/
CEO Unique (Rare Chromosome & Gene Disorders) 🧬
Assistant Professor at Vanderbilt Univ. Medical Center. Arrhythmia genetics, ion channels, high-throughput methods. http://andrewglazerlab.com.
I'm an Independent Scholar (https://independentscholar.academia.edu/MonicaHGreen). Daughter #2 of Marlon & Eleanor Green. Focusing on #histmed, Global Health, the Black Death. Latest: https://doi.org/10.1017/mdh.2024.29
senior reporter at the guardian us / julia.wong@theguardian.com / juliacarriewong.11 on Signal
Laboratory of Biophysical Chemistry of Macromolecules (LCBM) headed by @beatfierz.bsky.social at EPFL | Run by LCBM members
PhDing at the Sanger Institute, i'm evolving every day
Cancer scientist. Gene editing. Dog lover. Australian in the UK.
Research in AI for Protein Design @Harvard | Prev. CS PhD @UniofOxford, Maths & Physics @Polytechnique
Group Leader - Senior Lecturer (Assoc. Professor) at Blizard Institute, Queen Mary University of London.
#GeneRegulation, #Chromatin, #Epigenetics, #generegulation, #AI, #bioinformatics
https://www.qmul.ac.uk/blizard/all-staff/profiles/radu-zabet.html