Victor L. J. Tybulewicz

This study shows neuronal hyperactivity triggers C1q deposition on synapses, leading to synapse loss, and identifies immunoglobulins as involved in this process.

This study shows TACI regulates MZ B cell development through the PI3K-AKT pathway and FOXO1 inhibition, not B cell survival.

The paper investigates GABA inhibition in Down syndrome mouse models, finding circuit-specific increases in inhibition in the dentate gyrus due to gene dosage effects.

The paper identifies DYRK1A triplication as the major cause of otitis media in Down syndrome by using mouse models and shows that normalizing its dosage restores the wild-type phenotype.

This study develops a multi-omic reference of human cardiac development and identifies disruptions in Trisomy 21 hearts.

This study examines the brain phenotype of Dp1Tyb mice, a Down syndrome model, revealing neuroanatomical and biochemical alterations compared to wild-type controls.

The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.

This study identifies chromosome 21 genes other than APP that modulate amyloid-β accumulation in Down syndrome mouse models.

The paper identifies four Hsa21-orthologous genes, including Dyrk1a, that cause craniofacial dysmorphology in Down syndrome mouse models by reducing neural crest cell proliferation.

The paper phenotypes Dp1Tyb mice, a Down syndrome model, and identifies multiple DS-like traits including cognitive and physical abnormalities.

This paper applies a landmark-free morphometric method to a mouse model of Down syndrome, revealing localized cranial phenotypes not detectable with traditional landmark-based approaches.

This study identifies non-APP chromosome 21 genes that influence amyloid-β biology in Down syndrome mouse models, independent of APP copy number.

This study identifies maternal iron deficiency as an environmental teratogen causing congenital heart disease in mice, with potential implications for human health.

The paper shows that trisomy 21 cerebral organoids exhibit AD-like pathology, which can be suppressed by BACE2 trisomy and inhibited by BACE1 inhibitors, suggesting BACE2 as an AD-suppressor gene.

The paper identifies distinct hippocampal and prefrontal cortex circuit dysfunctions in DS mouse models linked to specific regions of human chromosome 21.

The paper shows that slower human embryonic development compared to mice is due to higher protein stability and longer cell cycle duration in human cells.