Agu Luján
banner
agulujan.bsky.social
Agu Luján
@agulujan.bsky.social
Reposted by Agu Luján
Spotlight: Sandkuhler and Mackenzie @urochester.bsky.social discuss new work from Lujan et al. (rupress.org/jcb/article/...), on the potential impact of protein-level discovery for individuals with TANGO2 deficiency disorder, a rare neurometabolic condition. rupress.org/jcb/article/...
April 15, 2025 at 4:37 PM
Very happy to see this Spotlight written by great colleagues in the TANGO2 field about our work published in JCB.
Spotlight: Sandkuhler and Mackenzie @urochester.bsky.social discuss new work from Lujan et al. (rupress.org/jcb/article/...), on the potential impact of protein-level discovery for individuals with TANGO2 deficiency disorder, a rare neurometabolic condition. rupress.org/jcb/article/...
April 17, 2025 at 5:32 PM
Reposted by Agu Luján
Mutations in the TANGO2 gene cause severe cardiomyopathies and rhabdomyolysis, particularly under stress. Lujan, Malhotra et al. @crg.eu demonstrate that TANGO2 is an acyl-CoA binding protein located in the #mitochondria lumen. buff.ly/4bqM7UP
February 28, 2025 at 5:10 PM
Reposted by Agu Luján
New study by Luján et al. from Vivek Malhotra's group @crg.eu (rupress.org/jcb/article/...) details the molecular mechanism of a rare illness that causes transient paralysis and dangerous arrhythmias. More in the news @elpais.com: english.elpais.com/science-tech...
Science finds explanation for disease that leaves children ‘frozen’
A team from the Center for Genomic Regulation in Barcelona details the molecular mechanism of a rare illness that causes transient paralysis and dangerous arrhythmias
english.elpais.com
March 3, 2025 at 3:14 PM
Reposted by Agu Luján
On #RareDiseaseDay researchers @crg.eu publish new data on TANGO2 Deficiency Disorder, with only 110 patients worldwide.

Read the interview to @agulujan.bsky.social in #PRBBellipse 👇
Congrats to all involved & to patients & families who are now closer to a cure 🧡

ellipse.prbb.org/new-study-on...
New study on TANGO2 illuminates the path of a rare disease - El·lipse
On World Rare Disease Day, a CRG team publishes new data on TANGO2 Deficiency Disorder (TDD), a metabolic disease of which there are 110 patients worldwide. We spoke with one of the authors, Agustín L...
ellipse.prbb.org
February 28, 2025 at 11:04 AM