Emmanuelle Sarzi

Molecular diagnostics of mitochondrial disorders.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

[Mitochondrial genome instability and associated diseases].

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Why mitochondria must fuse to maintain their genome integrity.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath.

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.