Varaico: Literature-Extracted Genetic Variants

Gene:NFS1
Variant:p.R72Q
Back to variants list

NFS1

NM_021100.5:p.R72Q

Associated Papers

Direct Cysteine Desulfurase Activity Determination by NMR and the Study of the Functional Role of Key Structural Elements of Human NFS1.

Sewell KE et al.

Acs Chemical Biology, 2023

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Yang JH et al.

Human Mutation, 2022

Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.

Zhang W et al.

Biophysics Reports, 2021

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.

Hershkovitz T et al.

Molecular Genetics and Metabolism Reports, 2021

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.

Maio N et al.

Trends in Biochemical Sciences, 2020

Structure and functional dynamics of the mitochondrial Fe/S cluster synthesis complex.

Boniecki MT et al.

Nature Communications, 2017

Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Alfadhel M et al.

Neurosciences (riyadh, Saudi Arabia), 2017

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

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Farhan SM et al.

Molecular Genetics & Genomic Medicine, 2014

Iron-Sulfur Protein Assembly in Human Cells.

Saha PP et al.

Reviews of Physiology, Biochemistry and Pharmacology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."