Victor Faúndez

Mitochondrially Transcribed dsRNA Mediates Manganese-induced Neuroinflammation

This paper identifies a novel mechanism by which manganese disrupts mitochondrial transcriptome processing, leading to dsRNA accumulation and neuroinflammation through MDA5 activation.

Distinct signaling mechanisms and proteome phenotypes are elicited by compartment-specific genetic defects of copper homeostasis

The paper compares the effects of copper deficiency in CTR1- and COX17-deficient cells using multiomics approaches, revealing distinct signaling mechanisms and proteome responses.

Temporal regulation of human reactive astrocytes reveals their capacity for antigen presentation

This study shows human astrocytes can present antigens via MHCII after chronic cytokine exposure, revealing their potential as antigen-presenting cells.

Neuroinflammatory Stress Preferentially Impacts Synaptic MAPK Signaling and Mitochondria in Excitatory Neurons

This study identifies synaptic proteome changes in response to neuroinflammation, revealing mitochondrial and MAPK signaling disruptions in excitatory neurons linked to Alzheimer's disease.

Cardiomyocyte-intrinsic SLC25A1 regulates cardiac differentiation and mitochondrial function

This study shows that SLC25A1 in cardiomyocytes regulates differentiation, mitochondrial function, and cardiac development, linking mitochondrial citrate export to developmental gene programs.

Convergent effects of neurodevelopmental disorder-associated variants at mitochondria

The paper investigates how neurodevelopmental disorder-associated variants affect mitochondrial proteins and finds convergent effects on mitochondrial translation in two high-risk CNVs.

Context-dependent ATP7 Interactions with Parkinson's Disease-associated Genes Modulate Copper Homeostasis Phenotypes

The paper investigates context-dependent interactions between ATP7 and Parkinson's disease-associated genes in Drosophila, revealing sex-specific effects on copper homeostasis and neurodegeneration.

Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes

The paper identifies haploinsufficient genes MRPL40 and SLC25A1 in the 22q11.2 locus and shows their genetic interactions contribute to cardiac and brain phenotypes in mice.

Meclizine rescues cardiac function and mitochondrial ultrastructure by ATP- and glycolysis-independent mechanisms in a genetic model of mitochondrial energy dysfunction

This study shows meclizine improves cardiac function and mitochondrial structure in a mitochondrial disease model without relying on ATP or glycolysis.

Brain Mecp2 Gene Dosage and Gene Therapy Shape Multi-Omic Signatures and Putative Biomarkers in Rett Syndrome

The paper identifies cross-species biomarkers and mechanisms in Rett Syndrome using gene therapy and multi-omic analysis in mice.

Lead (Pb) exposure alters neural cell fate in the developing human brain

This study shows that prenatal lead exposure biases neural cell fate in human brain development by increasing neurons and reducing astrocytes through epigenetic changes.

Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration

The paper investigates how neuronal cells adapt to copper deficiency by increasing protein synthesis through mTORC1 activation and reduced PERK signaling in multiple model systems.

Proximity labeling proteomics reveals Kv1.3 potassium channel immune interactors in microglia.

The paper identifies Kv1.3 potassium channel interactors in microglia using proximity labeling proteomics, revealing domain-specific interactions with immune signaling proteins during inflammation.

Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants

The paper identifies systemic proteome and transcriptome changes in Mecp2 mutants, revealing impaired metabolic flexibility across multiple organs and brain regions.

Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion

This study uses cross-species scRNA-seq to show that the 3q29 deletion causes mitochondrial dysfunction in both human cortical organoids and mouse models, suggesting a conserved metabolic disruption in schizophrenia.

Mitochondrial citrate carrier SLC25A1 is a dosage-dependent regulator of metabolic reprogramming and morphogenesis in the developing heart

This study identifies SLC25A1 as a dosage-dependent regulator of metabolic reprogramming and heart development, linking mitochondrial function to cardiac morphogenesis and congenital heart disease.

Convergent Cerebrospinal Fluid Proteomes and Metabolic Ontologies in Humans and Animal Models of Rett Syndrome

The paper identifies shared proteomic and metabolic ontologies in Rett syndrome across species and validates them as potential biomarkers.

Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus that are Necessary for Synapse Function

The paper shows that mitochondrial proteostasis genes in a neurodevelopmental syndrome locus are essential for synapse function and behavior in Drosophila.

Golgi-Dependent Copper Homeostasis Sustains Synaptic Development and Mitochondrial Content

This study shows that Golgi-dependent copper homeostasis, mediated by ATP7 and COG, is essential for maintaining mitochondrial function and synaptic integrity in neurons.

Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior

The paper identifies a mitochondrial transporter interactome disruption in 22q11.2 syndrome, linking it to synapse function and behavior.