R. J. Kaufman

Excitatory neuron-specific suppression of the integrated stress response pathway contributes to autism-related phenotypes in a mouse model of fragile X syndrome

The paper shows that suppressing the ISR pathway in excitatory neurons of FXS mice leads to autism-like behaviors and that restoring it rescues these phenotypes.

Inflammatory cytokines rewire the proinsulin interaction network in human islets

This study identifies how inflammatory cytokines alter the proinsulin interactome in human islets, revealing new interactions and mechanisms involved in diabetes-related proinsulin dysregulation.

Ectopic FVIII expression and misfolding in hepatocytes as a cause for hepatocellular carcinoma

This study shows that ectopic expression of misfolded BDD-FVIII in hepatocytes promotes hepatocellular carcinoma under high fat diet, independent of viral transduction.

A reference map of the human proinsulin biosynthetic interaction network

This study identifies a conserved proinsulin interactome in human islets, revealing PRDX4's role in proinsulin folding and its inactivation in T2D.

Chop/Ddit3 depletion in β-cells alleviates ER stress and corrects hepatic steatosis

This study shows that deleting Chop/Ddit3 in β-cells reduces ER stress and corrects fatty liver disease in T2D without affecting glucose homeostasis.

Role of Proinsulin Self-Association in Mutant INS gene-induced Diabetes of Youth

This study identifies proinsulin self-association as a mechanism driving dominant-negative effects of misfolded proinsulin in MIDY, offering a therapeutic target for enhancing insulin production.

Mitochondria supply ATP to the ER through a mechanism antagonized by cytosolic Ca2+

The paper identifies a Ca2+-antagonized mechanism for ATP transport into the ER and links ER ATP usage to an anti-Warburg metabolic effect.