Gerald Pfeffer

Altered Steroidogenesis in Response to Impaired Mitochondrial Protein Homeostasis

This study shows that mitochondrial proteostasis stress causes a biphasic cortisol response, with mild stress increasing and severe stress decreasing cortisol production, linking mitochondrial function to steroidogenesis in Parkinson's disease models.

Pathogenic Mitofusin 2 variants causing myopathy drive endosomal mtDNA release and inflammation

The paper identifies how pathogenic MFN2 variants cause mtDNA release into endosomes and mitochondrial-derived vesicles, triggering inflammation and myopathy, and suggests a therapeutic strategy using integrated stress response activation.

The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation

The paper identifies a novel MFN2 variant, Q367H, linked to mtDNA-mediated inflammation in a patient with distal myopathy, revealing a pathomechanism connecting MFN2 dysfunction to inflammatory signaling.

The gut microbiota is a determinant of sexual dimorphism in ALS-linked TDP43 mice

This study shows that the gut microbiota influences sexual dimorphism in ALS-linked TDP43 mice by affecting disease onset and severity, independent of sex hormones.

A Protocol for Single Nucleus RNAseq from Frozen Skeletal Muscle

This paper presents a method for snRNAseq from frozen human skeletal muscle, enabling analysis of cell types despite tissue degradation and pathological changes.

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

The paper reports a novel MFN2 variant associated with ataxia, optic atrophy, and sensorineural hearing loss, and shows its functional impact in patient fibroblasts.

Single molecule long-read real-time amplicon-based sequencing of CYP2D6: a proof-of-concept with hybrid haplotypes

This paper develops a HiFi SMRT amplicon-based method to accurately detect CYP2D6 haplotypes, including fusion genes, with high alignment accuracy.

Cross-validation of technologies for genotyping CYP2D6 and CYP2C19

The paper cross-validates genotyping methods for CYP2D6 and CYP2C19, finding high concordance for CYP2C19 and feasibility of NGS for CYP2D6 with automated interpretation.