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Redox Biology|September 28, 2024
Physioxia rewires mitochondrial complex composition to protect stem cell viabilityJanice Raabe, Ilka Wittig, Patrick Laurette, et al.
The EMBO Journal|July 21, 2022
AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5Silja Lucia Salscheider, Sarah Gerlich, Alfredo Cabrera-Orefice, et al.
Signal Transduction and Targeted Therapy|March 2, 2026
Enhancing KLF15 activity in cardiomyocytes: a novel approach to prevent pathological reprogramming and fibrosis via nuclease-deficient dCas9VPREric Schoger, Rosa Kim, Federico Bleckwedel, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 15, 2025
CD70 recruitment to the immunological synapse is dependent on CD20 in B cellsAbbey B Arp, Andrea Abel Gutierrez, Martin Ter Beest, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Science (New York, N.Y.)|November 14, 2024
Pathogenic proteotoxicity of cryptic splicing is alleviated by ubiquitination and ER-phagyCristian Prieto-Garcia, Vigor Matkovic, Thorsten Mosler, et al.
The EMBO Journal|December 17, 2025
The transaminase-ω-amidase pathway senses oxidative stress to control glutamine metabolism and α-ketoglutarate levels in endothelial cellsNiklas Herrle, Pedro F Malacarne, Timothy Warwick, et al.
American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
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