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Author

P. Fernández-Silva

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2 papers indexed here

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Open access Aug 2026

Functional plasticity of AIF revealed by dimerization and CHCHD4 interaction states

Apoptosis-inducing factor is a mitochondrial flavoprotein that links redox metabolism to mitochondrial homeostasis through its interaction with the disulfide relay protein CHCHD4. Although NADH-dependent AIF dimerization has been proposed as the activated state mediating CHCHD4 engagement, whether it is strictly requir...

Olga Soriano, Soraya Hernández-Hatibi, Rebeca Gracia-Domingo et al. · 0 citations
Open access Aug 2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is an ultra-rare autosomal recessive neuropathy caused by mutations in the MTMR5/SBF1 gene. In this study, we characterized dermal fibroblasts derived from a patient carrying compound-heterozygous MTMR5/SBF1 variants (R763H/G1064E) and identified alterations affecting mitoc...

Paola Zanfardino, A. Amati, S. Cox et al. · 0 citations

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