Jouni Kvist

Metabolic commitment to human motor neurons is characterized by mitochondrial depletion and pyruvate rewiring

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

Loss of mitochondrial co-chaperone GRPEL2 protects mice from age- and diet-induced obesity

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.

Primate-specific ZNF808 is essential for pancreatic development in humans

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 type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α

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.

Functional, metabolic and transcriptional maturation of stem cell derived beta cells

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

Peripheral neuropathy linked mRNA export factor GANP reshapes gene regulation in human motor neurons

This study shows that GANP deficiency in human motor neurons disrupts gene regulation and RNA metabolism, affecting nearly 40% of expressed genes and splicing patterns.

CHCHD10 OR CHCHD2 ARE NOT REQUIRED FOR HUMAN MOTOR NEURON DIFFERENTIATION IN VITRO BUT MODIFY SYNAPTIC TRANSCRIPTOMES

Maturation of Neuronal Activity in Caudalized Human Brain Organoids

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.