Author
University Medical Center Hamburg-EppendorfORCID 0000-0002-6630-0562Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Büsra Kizmaz, Annika Nutz, Steffen Hess…·Johannes M. Herrmann
The paper identifies the cohibitin complex, including Aim11, as a quality control factor that supports TIM22-mediated insertion of carrier proteins into the mitochondrial inner membrane.
Florian Buerger, Daanya Salmanullah, Lorrin Liang…·Amar J. Majmundar
This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.
Robin Wijngaard, Caspar I. van der Made, Sema Kalkan Uçar…·Sergio Guerrero‐Castillo
The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.
Joeri van Strien, Alexander Haupt, Uwe Schulte…·Martijn A. Huynen
CEDAR provides a database for complexome profiling data with standardized formats, a web interface, and tools for analysis and exploration.
Joeri van Strien, Sergio Guerrero‐Castillo, Iliana A. Chatzispyrou…·Martijn A. Huynen
COPAL aligns complexome profiles to identify changes in mitochondrial protein complex abundance caused by Barth syndrome mutations.
Iliana A. Chatzispyrou, Marielle M. Alders, Sergio Guerrero‐Castillo…·Astrid S. Plomp
This study identifies a homozygous ERAL1 mutation as the cause of Perrault syndrome, showing it disrupts mitochondrial ribosome assembly and function.