Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding
Barathram Swaminathan, Hwi M Gil, Sagar Bhattad, Jyothi Janardhanan, Gerardo Mejía Baltodano, Christine Mariskanish, Shamel Basaria, Joseph M Choi, Qi Liu, Lisette M Scheepmaker, Mohamud Mohamed, Bertrand Boisson, Jean-Laurent Casanova, Ivona Aksentijevich, András N Spaan, Janet G Markle · 2026
Read Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding by Barathram Swaminathan, Hwi M Gil, Sagar Bhattad, Jyothi Janardhanan, Gerardo Mejía Baltodano, Christine Mariskanish, Shamel Basaria, Joseph M Choi, Qi Liu, Lisette M Scheepmaker, Mohamud Mohamed, Bertrand Boisson, Jean-Laurent Casanova, Ivona Aksentijevich, András N Spaan, Janet G Markle (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13414579.txt.
Description
Barathram Swaminathan and co-authors describe three children with pyoderma gangrenosum, a painful ulcerating skin disease, in a 2026 genetics report. All three carried two copies of an R57C change in OTULIN, a gene that trims linear ubiquitin chains. The change sits outside the enzyme's active site.
Laboratory work showed the altered protein still cuts ubiquitin yet can no longer bind the LUBAC complex that builds those chains. Patient cells made excess interleukin-1 signals and died more readily when exposed to tumor necrosis factor. Skin cells gathered linear ubiquitin, pointing to unchecked LUBAC activity. Blocking interleukin-1 or tumor necrosis factor may help such patients.
Catalog record
| CREATOR | Barathram Swaminathan, Hwi M Gil, Sagar Bhattad, Jyothi Janardhanan, Gerardo Mejía Baltodano, Christine Mariskanish, Shamel Basaria, Joseph M Choi, Qi Liu, Lisette M Scheepmaker, Mohamud Mohamed, Bertrand Boisson, Jean-Laurent Casanova, Ivona Aksentijevich, András N Spaan, Janet G Markle |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 110554 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |