Alfredo Cabrera‐Orefice

This study identifies GSDME-N as a mediator of mitochondrial inner membrane permeabilization and mtDNA release during apoptosis, revealing its structural mechanism and impact on inflammatory responses.

This study shows that AMPK activation rescues mitochondrial function and structural remodeling in TMEM70-deficient cardiomyocytes, highlighting a metabolic rescue mechanism in mitochondrial cardiomyopathy.

This study reveals age-related changes in the composition and bioactivity of Vipera berus venom, linking ontogenetic dietary shifts to venom phenotype and function.

The paper identifies the cohibitin complex, including Aim11, as a quality control factor that supports TIM22-mediated insertion of carrier proteins into the mitochondrial inner membrane.

The paper uses human heart organoids to model mitochondrial disease and identifies a drug that improves mitochondrial function and tissue contractility.

This study identifies Aim11 as a protein essential for mitochondrial cytochrome c oxidase assembly, showing that its deletion reduces respiratory growth and CIV activity.

The paper identifies the transaminase-omega-amidase pathway as a redox-sensitive metabolic switch in endothelial glutamine metabolism, showing that NIT2 oxidation inhibits its activity and affects angiogenesis.

The paper investigates the pathogenic mutation m.10191T>C in mitochondrial DNA, showing it leads to reduced complex I function and NADH accumulation, contributing to Leigh syndrome.

This study shows RTN4IP1 is critical for mitochondrial complex I assembly and coenzyme Q biosynthesis, with mutations causing defects in both processes in patient cells.

The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.

This study identifies synergistic metabolic inhibitors that selectively target ovarian and colorectal cancer cells by disrupting both glycolysis and oxidative phosphorylation.

This paper presents a genome-guided functional venomics analysis of many-banded krait venom, revealing its composition, activity, and β-bungarotoxin dimerization patterns.

The paper investigates sex-based venom variation in the common adder, finding minimal differences in venom profiles and bioactivity between sexes.

The paper identifies a COA5 missense variant causing isolated mitochondrial complex IV assembly impairment in two siblings and validates its role in early CIV assembly using patient-derived cells and CRISPR/Cas9 knockout models.

This study identifies long non-coding RNAs (lncRNAs) as guides for the SWI/SNF complex to cell-specific enhancers, revealing a mechanism for chromatin accessibility and gene expression control.

This study identifies COA8 as a COX10-binding protein essential for COX10 stability and catalytic activity in human cytochrome c oxidase biogenesis.

The paper optimizes complexome profiling to better study mitochondrial DNA- and RNA-protein interactions, demonstrating improved identification of interactors in human mitochondria with impaired gene expression.

CompaCt integrates complexome profiling data across species to identify conserved and species-specific protein complexes and interactions, improving characterization through comparative analysis.

This paper identifies c17orf80 as a mitochondrial membrane protein interacting with nucleoids but not essential for mtDNA maintenance or expression in human cells.

The paper shows that the mitochondrial proton gradient regulates the m-AAA protease AFG3L2 through TMBIM5, linking protein turnover to mitochondrial energy status and Ca2+ signaling.

The paper identifies a previously overlooked complex between AIFM1 and cytochrome c oxidase using mass spectrometry and proteomic approaches, revealing structural insights and potential roles in OXPHOS and cell death.

CEDAR provides a database for complexome profiling data with standardized formats, a web interface, and tools for analysis and exploration.