Timo Otonkoski

The paper characterizes metabolic changes in human motor neuron differentiation, showing mitochondrial depletion and a shift in pyruvate metabolism.

This study shows that loss of GRPEL2 in mice protects against age- and diet-induced obesity and improves metabolic health without affecting mitochondrial protein import.

This study identifies Scinderin as a regulator of Golgi actin remodeling that coordinates GLP-1 and insulin secretion, linking intracellular trafficking defects to glucose homeostasis and diabetes.

This study identifies a 94-bp deletion in the SLC16A1 promoter causing hyperinsulinism by increasing MCT1 expression and triggering inappropriate insulin secretion during physical activity.

This study shows that ghrelin and relamorelin reduce hypoglycaemia in humanised mice with KATPHI by enhancing glucose levels, especially when combined with octreotide.

This study examines how alcohol exposure affects the transcriptome, methylome, and metabolome of human embryonic cells during gastrulation, identifying key gene and metabolic changes linked to fetal alcohol spectrum disorders.

The paper identifies homozygous loss of function variants in ZNF808 as a cause of pancreatic agenesis in humans, showing its role in repressing transposable elements during pancreatic development.

The paper investigates the effects of alcohol exposure on placental DNA methylation and identifies DPPA4 as a candidate gene for alcohol-induced developmental disorders.

This study shows that TYK2 is critical for β-cell development by regulating KRAS and IFN responses, suggesting TYK2 inhibition as a therapeutic target for type 1 diabetes.

The paper introduces Islet Gene View (IGW), a platform that integrates gene expression and phenotypic data from pancreatic islets to explore T2D-related gene expression changes and their functional implications.

This study generates and benchmarks functionally mature stem cell-derived islets, showing they closely resemble primary adult islets in transcriptional and functional properties.

This study shows that DUX4 regulates the oocyte-to-embryo transition in humans by activating enhancers and promoting genome reprogramming.

The paper shows that a loss-of-function variant in ZnT8 improves insulin secretion and protects against type 2 diabetes by enhancing glucose responsiveness and proinsulin conversion.

This study describes a protocol to generate hindbrain-like human brain organoids with mature, functional neurons and reports their response to Zika virus and anticonvulsants.