Metabolism and Genetic Disorders

The paper identifies genetic modifiers of propionate sensitivity in C. elegans using genome-wide association mapping and shows that natural variation in GLCT-3 modulates this trait.

This study uses multi-omic profiling of blood samples from ALD patients to identify molecular markers predictive of cerebral demyelination, but finds no statistically significant markers due to high inter-individual variation.

DDIEM compiles therapeutic strategies for 299 inborn errors of metabolism, classifying treatments by mechanism of action using a new ontology.

The paper develops a mutation score and clinical severity scale to predict neurological disease severity in glycine decarboxylase mutations.

The paper uses a fibroblast-specific genome-scale model to identify metabolic imbalances in Refsum disease, highlighting amino acid metabolism changes.

The paper identifies 18 Drosophila genes affecting peroxisomes through a genetic screen and links their human homologs to potential dominant genetic diseases.

This study shows that deleting the creatine transporter in dopaminergic neurons causes hyperactivity in mice without affecting motor function.

This study shows that deleting the creatine transporter gene in neonatal mice causes cognitive deficits, but not in adult mice, indicating Cr's necessity during brain development.

The paper identifies AMPK signaling as a regulator of urea cycle enzyme expression in response to dietary protein intake changes in mice and human hepatocytes.

The paper investigates the role of L-arginine in NAGS activation and ureagenesis by studying NAGS knockout mice and a human patient with a related mutation.

This paper demonstrates that gene therapy using AAV8 vector corrects urea cycle and citrulline-NO cycle defects in ASL-deficient mice, reducing neuronal disease and improving behavior.

This study investigates how the Drosophila mitochondrial citrate carrier affects L-2-hydroxyglutarate levels by linking the tricarboxylic acid cycle to glycolysis.

The paper estimates SLOS carrier frequencies and in utero mortality rates by analyzing carrier screening data and comparing predicted to observed birth incidences.