Associated Papers
Yeast models of mutations in NFU1 gene for biochemical characterization and drug screening.
Liu S et al.
Biochemical and Biophysical Research Communications, 2025
Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1.
Kropp PA et al.
Disease Models & Mechanisms, 2023
Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R et al.
Annals of Clinical and Translational Neurology, 2022
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
Lebigot E et al.
Biomedicines, 2021
Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans.
Kropp PA et al.
Plos Genetics, 2021
Biochemical impact of a disease-causing Ile67Asn substitution on BOLA3 protein.
Sen S et al.
Metallomics : Integrated Biometal Science, 2021
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Uzunhan TA et al.
Brain & Development, 2020
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E et al.
Molecular Genetics and Metabolism, 2017
Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.
Wesley NA et al.
The Febs Journal, 2017
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
New spastic paraplegia phenotype associated to mutation of NFU1.
Tonduti D et al.
Orphanet Journal of Rare Diseases, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting U et al.
Frontiers in Genetics, 2015
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
Nizon M et al.
Mitochondrion, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
Invernizzi F et al.
Frontiers in Genetics, 2014
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0