Varaico: Literature-Extracted Genetic Variants

Gene:GLRX5
Variant:p.L148S
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GLRX5

NM_016417.3:p.L148S

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.

Camponeschi F et al.

Biomolecules, 2022

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Sankaran BP et al.

Orphanet Journal of Rare Diseases, 2021

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

Zhang W et al.

Biophysics Reports, 2021

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Feng WX et al.

Frontiers in Genetics, 2021

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

Maio N et al.

Trends in Biochemical Sciences, 2020

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

Wachnowsky C et al.

Metallomics : Integrated Biometal Science, 2018

Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.

Liu G et al.

Journal of Cellular Biochemistry, 2016

Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient.

Liu G et al.

Blood, 2014

Iron-Sulfur Protein Assembly in Human Cells.

Saha PP et al.

Reviews of Physiology, Biochemistry and Pharmacology, 0

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