Author

Marianne Gaubert

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Review Open access Jan 2026

Insights Into RP2‐Associated Retinopathy: From Molecular Basis to Clinical Translation

Pathogenic variants in RP2 cause X‐linked RP2‐associated retinopathy, a rare inherited retinal disorder typically characterized by childhood onset and progression to severe visual impairment within the first three decades of life. Despite its clinical severity, comprehensive clinical and genetic data on RP2‐associated...

N. Bögershausen, Patricia Döring, Maximilian J. Gerhardt et al. · Human Mutation · 0 citations

Open access Aug 2026

Distinct mitochondrial DNA single-nucleotide variant signatures in TOP3A-deficient cardiomyocytes

The human heart has a continuous and exceptionally high demand for energy, which is met primarily through mitochondrial oxidative phosphorylation. This dependence places the maintenance and integrity of mitochondrial DNA (mtDNA) for proper mitochondrial function at the center of cardiac health, as mtDNA instability has...

Marianne Gaubert, Halima Alachram, Ipek Ilgin Gönenç et al. · bioRxiv · 0 citations

Open access Aug 2026

u4atac regulates cilium biogenesis through splicing of the minor intron of tmem107l and rfx7b in zebrafish developing brain

These findings establish TMEM107 and RFX7 as key components of the molecular pathway linking U4atac dysfunction to ciliary defects and impaired brain development, providing new physiopathological insights and therapeutic perspectives for RNU4ATAC-related disorders.

Cyril Jovani, A. Rabec, Marianne Gaubert et al. · bioRxiv · 0 citations