Varaico: Literature-Extracted Genetic Variants

Gene:ISCU
Variant:p.M140I
Back to variants list

ISCU

NM_213595.4:p.M140I

Associated Papers

Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear Fe-S Cluster Assembly.

Mosbach V et al.

Biorxiv : the Preprint Server for Biology, 2025

Mechanism of frataxin "bypass" in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia.

Das D et al.

The Journal of Biological Chemistry, 2019

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.

Ast T et al.

Cell, 2019

Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity.

Fox NG et al.

Biochimie, 2018

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."