Metabolism and Genetic Disorders

This study challenges the assumption that BCAA supplementation benefits BCKDK deficiency by showing it worsens neurodevelopmental issues in a mouse model.

This study identifies genotype-phenotype associations and health disparities in CTX by integrating clinical, functional, molecular, and population genetic data.

This study identifies a postnatal skin barrier defect in Suox-/- mice, linking sulfite oxidase deficiency to epidermal dysfunction and early mortality.

This paper develops a computational model of amino acid and neurotransmitter metabolism in PKU to identify therapeutic strategies for improving cognitive function.

The paper introduces a web application for exploring metabolomics data from plasma and fibroblasts of patients with inborn errors of metabolism, enabling analysis of metabolic deviations and relationships.

The paper uses CRISPR-Cas9 in mice to identify modifier genes that affect the severity of tyrosinemia type 1 by editing enzymes in the tyrosine catabolic pathway.

The paper investigates how phenylalanine and tyrosine levels affect dopamine production in PC12 cells, revealing molecular mechanisms linking these amino acids to dopamine synthesis in PKU and TYRSN1.

The paper uses tracer-based lipidomics to identify two new disease-specific biomarkers for mitochondrial β-oxidation disorders, revealing insights into lipid metabolism and potential diagnostic applications.

The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.

This paper presents a framework integrating metabolic pathway knowledge with patient data to aid in diagnosing inherited metabolic disorders through visualization of biomarker interactions.

The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.

This study investigates the pathology of Combined D,L-2-Hydroxyglutaric Aciduria and evaluates phenylbutyrate as a potential treatment through metabolomic and RNA-seq analyses.

This paper introduces a dietary regimen that allows breeding of Pahenu2 homozygous C57BL/6J mice without fostering, producing 100% homozygous litters.

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.

The paper identifies 14 biomarkers associated with cognitive improvement in a Slc6a8 knockout mouse model treated with DCE, linking them to proteins involved in CTD pathogenesis.

This study shows that mRNA therapy restores ureagenesis and glutathione metabolism in ASL-deficient mice, correcting liver disease and neurocognitive impairments.

This study identifies neurodevelopmental defects in X-ALD using rat models, showing intrinsic and astrocyte-dependent mechanisms affecting neuritogenesis.

This study uses iPSC-derived astrocytes to compare metabolic and inflammatory responses between AMN and cALD phenotypes in X-ALD, identifying miR-9 as associated with disease severity.

The paper identifies glutamine and secondary oxidative propionyl-CoA oxidation pathways as important in MMUT-type methylmalonic aciduria through genetic and environmental interventions in cellular and computational models.

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.

This study shows that methylmalonic acid reduces cell viability, impairs energy metabolism, and decreases glutamate uptake in C6 rat glioma cells.

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.

This study investigates the impact of propionic acidemia on astrocytes, finding minimal alterations in both in vitro and in vivo models, suggesting astrocytes may not be a primary target for therapy.

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.