Varaico: Literature-Extracted Genetic Variants

Gene:LYRM4
Variant:p.R68L
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LYRM4

NM_020408.6:p.R68L

Associated Papers

CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.

Gentili HG et al.

The Biochemical Journal, 2023

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

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

Zhang W et al.

Biophysics Reports, 2021

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

Maio N et al.

Trends in Biochemical Sciences, 2020

Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria.

Coelho MP et al.

Jimd Reports, 2019

Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.

Wachnowsky C et al.

Metallomics : Integrated Biometal Science, 2018

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

Alfadhel M et al.

Neurosciences (riyadh, Saudi Arabia), 2017

Mapping Key Residues of ISD11 Critical for NFS1-ISD11 Subcomplex Stability: IMPLICATIONS IN THE DEVELOPMENT OF MITOCHONDRIAL DISORDER, COXPD19.

Saha PP et al.

The Journal of Biological Chemistry, 2015

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC et al.

Human Molecular Genetics, 2013

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."