Metabolism and Genetic Disorders

This study identifies the cellular specificity of Leigh syndrome genes using transcriptomic analyses and finds enrichment in neuronal cells and pre-synaptic structures.

The paper analyzes 27 Italian GLUT1DS patients, identifying 10 novel variants and correlating mutation types with clinical severity.

This study analyzes NADK2 deficiency in mouse models to identify metabolic and gene expression changes, revealing similarities and differences with another neurological disease model.

This paper introduces Reafect, a computational method that integrates metabolomics and whole exome sequencing to prioritize disease-causing genes in inborn errors of metabolism, showing improved accuracy in identifying causative variants.

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.

This study uses a zebrafish model of Zellweger syndrome to show organ-specific fatty acid accumulation and gene expression changes linked to peroxisome dysfunction.

The paper describes the development of a novel SSADHD mouse model to study the safety and feasibility of SSADH restoration therapies.

The paper develops a prediction model for prenatal disease outcomes in GLDC mutations using combined human and murine genomic analyses and in vivo evidence.

This study shows that activating autophagy via Beclin-1 improves biochemical and clinical outcomes in two types of urea cycle 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.

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.