Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Yeast models of mutations in NFU1 gene for biochemical characterization and drug screening.
Liu S et al.
Biochemical and Biophysical Research Communications, 2025
Mitochondria as a primary determinant of angiogenic modality in pulmonary arterial hypertension.
Niihori M et al.
The Journal of Experimental Medicine, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R et al.
Annals of Clinical and Translational Neurology, 2022
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Cruz-Utrilla A et al.
International Journal of Molecular Sciences, 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
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Biochemical impact of a disease-causing Ile67Asn substitution on BOLA3 protein.
Sen S et al.
Metallomics : Integrated Biometal Science, 2021
Single Mutation in the NFU1 Gene Metabolically Reprograms Pulmonary Artery Smooth Muscle Cells.
James J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Birjiniuk A et al.
American Journal of Medical Genetics. Part A, 2020
Rats with a Human Mutation of NFU1 Develop Pulmonary Hypertension.
Niihori M et al.
American Journal of Respiratory Cell and Molecular Biology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.
de Souza PVS et al.
Journal of Pediatric Genetics, 2018
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
Analysis of NFU-1 metallocofactor binding-site substitutions-impacts on iron-sulfur cluster coordination and protein structure and function.
Wesley NA et al.
The Febs Journal, 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
Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.
Jin D et al.
Journal of Molecular Neuroscience : Mn, 2017
Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.
Wachnowsky C et al.
Journal of Molecular Biology, 2017
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
Ferrer-Cortès X et al.
Mitochondrion, 2016
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.
Maio N et al.
Biochimica Et Biophysica Acta, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting U et al.
Frontiers in Genetics, 2015
Mitochondrial iron-sulfur protein biogenesis and human disease.
Stehling O et al.
Biochimie, 2014
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
Nizon M et al.
Mitochondrion, 2014
Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects.
De Paepe B et al.
Phytotherapy Research : Ptr, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
Invernizzi F et al.
Frontiers in Genetics, 2014
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X et al.
Journal of Inherited Metabolic Disease, 2013
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A et al.
American Journal of Human Genetics, 2011
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0
"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency.
Stéphanie P et al.
Annals of Pediatric Cardiology, 0