Thorsten Hornemann

This study creates a mouse model with a heterozygous deletion of Sptlc1 exon 2 and finds no motor defects or ALS-like neuropathology, but homozygous mutants die prematurely.

This study identifies CYP4F2 as a key enzyme mediating ω-hydroxylation of 1-deoxySLs, revealing a new hepatic detoxification pathway that reduces their cytotoxicity.

This study compares the metabolic consequences of SPTLC1 and SPTLC2 mutations in different neuropathies, revealing distinct sphingolipid flux patterns associated with ALS, HSAN1, and mixed sensory-motor phenotypes.

This study identifies SPTLC3's role in integrating bile acid-FXR signaling with sphingolipid remodeling in MASLD, showing its dysregulation in human liver and association with disease.

This study identifies VLC fatty acids as mediators of 1-deoxySL toxicity through mitochondrial dysfunction and BAX-dependent apoptosis.

This study identifies metabolic origins of neurotoxic 1-deoxySL in T2D through proteomics, lipidomics, and metabolomics analyses in human and rodent models.

This study shows that SETD2 promotes lipotoxic injury in cHFpEF by regulating SREBP1 and lipid metabolism, and its inhibition improves cardiac function.

This paper investigates SPLIS, showing that S1P accumulation in SPL-deficient cells leads to nephrotoxicity, which can be mitigated by Fasudil.

This study shows that Bbs1 is essential for maintaining photoreceptor outer segment lipid composition and function, with loss leading to early visual deficits and retinal degeneration.

This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.