Associated Papers
A molecular basis of Ferredoxin Reductase (FdxR) mutations that result in mitochondriopathies.
Kumar A et al.
Journal of Inorganic Biochemistry, 2025
Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
Grifagni D et al.
Protein Science : a Publication of the Protein Society, 2024
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E et al.
Jci Insight, 2024
38885337 (PubMed )
Supplement: jciinsight-9-179071-s025.pdf
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Masnada S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
37046037 (PubMed )
Supplement: 10072_2023_6790_MOESM1_ESM.xlsx › Foglio1
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S et al.
Genes, 2023
37107710 (PubMed )
Supplement: genes-14-00952-s001.zip › YiST-FDXR-Supplementary_Table_S3.pdf
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton SL et al.
Human Mutation, 2021
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A et al.
American Journal of Human Genetics, 2017
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