Varaico: Literature-Extracted Genetic Variants

Gene:NFU1
Variant:p.C210F
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NFU1

NM_001002755.4:p.C210F

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

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

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

Radical S-Adenosylmethionine Enzymes in Human Health and Disease.

Landgraf BJ et al.

Annual Review of Biochemistry, 2016

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."