Henna Tyynismaa

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 uses human stem cells and tissues to investigate LCCS1, revealing impaired RNA metabolism and developmental defects in neural crest and neuromuscular systems.

This paper identifies a homozygous nonsense variant in ITPR3 in Lancashire Heeler dogs causing enamel defects and nerve dysfunction, showing IP3R3 loss affects IP3R1 and IP3R2 levels and Ca2+ signaling.

This study shows ADP-bound mtHSP70 binds preferentially to GRPEL1 over GRPEL2, with structural insights into their functional differences.

AARS Online provides a curated database of aminoacyl-tRNA synthetases with sequence, structure, and evolutionary information, accessible via an interactive platform.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

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.