Associated Papers
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.
Shen MM et al.
Annals of Clinical and Translational Neurology, 2024
CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.
Gentili HG et al.
The Biochemical Journal, 2023
PROST: AlphaFold2-aware Sequence-Based Predictor to Estimate Protein Stability Changes upon Missense Mutations.
Iqbal S et al.
Journal of Chemical Information and Modeling, 2022
Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.
Espeche LD et al.
Archives of Biochemistry and Biophysics, 2022
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
Dong YN et al.
Human Molecular Genetics, 2019
Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R.
Clark E et al.
Annals of Clinical and Translational Neurology, 2019
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