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/...

Very happy to see this Spotlight written by great colleagues in the TANGO2 field about our work published in JCB.

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

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...

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...