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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

E. Morava

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Open access Sep 2026

ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling

Multi-omics characterization of 2 patients with biallelic HYOU1 variants reveals that HYOU1 deficiency impairs the unfolded protein response, disrupts early B cell development, and alters neutrophil granulation as well as IFN signalling, further establishing ER proteostasis as a contributor to human immune homeostasis.

Aida Idani, S. Bibi-Triki, Tristan Stemmelen et al. · 0 citations
Open access Sep 2026

Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits.

The results define cis-PTase as a master regulator of CNS development and function and establish that its monoallelic debilitating variants cause a novel congenital disorder of glycosylation associated with aberrant levels of neuronal proteins and lipids.

Afitz Da Silva, Merrick S. Fallah, Samuel Boris Tene Tadoum et al. · 0 citations
Jul 2026

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Histopathological, electron microscopical, biochemical, and molecular characterization of muscle and heart tissue indicated mitochondrial dysfunction with combined complex deficiency associated with a mitochondrial DNA maintenance disorder primarily expressed in the heart.

Rodrigo T. Starosta, Marisa W. Friederich, Graeme Preston et al. · 1 citation

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