Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Stark JC et al.
Genome Medicine, 2025
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
Seo SH et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.
Jain A et al.
Human Molecular Genetics, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.
de Souza PVS et al.
Journal of Pediatric Genetics, 2018
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting U et al.
Frontiers in Genetics, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
Cameron JM 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
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