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Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.
J Pharmacol Exp Ther
February 2025
Department of Biochemistry & Biophysics, Texas A&M University, College Station, Texas. Electronic address:
Copper (Cu) is an essential cofactor for metalloenzymes such as cytochrome c oxidase (CcO), the terminal enzyme of the mitochondrial electron transport chain. Mutations that directly or indirectly prevent Cu transport to mitochondria result in lethal pediatric diseases, such as Menkes disease. There is no clinically approved treatment for Menkes disease.
View Article and Find Full Text PDFMenkes disease with unilateral lacrimal fistula.
J Fr Ophtalmol
February 2025
Paediatric Oculoplastics Department, Hospital Sant Joan de Déu, Passeig de Sant Joan de Déu, 2, 08950 Barcelona, Spain.
Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy.
Int J Dev Neurosci
February 2025
Department of Neurology, Women and Children's Hospital of Ningbo University, Ningbo, China.
Menkes disease (MD) is a rare X-linked recessive syndrome that is caused by mutations in the ATP7A gene, which encodes the P-type ATP enzyme. The ATP7A gene encodes 1500 amino acids and is expressed in a number of organs, including the brain, muscles, kidneys and lungs. ATP7A transports copper between cell membranes using energy generated by ATP hydrolysis.
View Article and Find Full Text PDFRestoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing.
Biomolecules
January 2025
Bioscience, Biotechnology and Biomedical Engineering Research Area, Japan Advanced Institute of Science and Technology, Nomi 923-1211, Japan.
RNA editing is a significant mechanism underlying genetic variation and protein molecule alteration; C-to-U RNA editing, specifically, is important in the regulation of mammalian genetic diversity. The ability to define and limit accesses of enzymatic machinery to avoid the modification of unintended targets is key to the success of RNA editing. Identification of the core component of the apoB RNA editing holoenzyme, APOBEC, and investigation into new candidate genes encoding other elements of the complex could reveal further details regarding APOBEC-mediated mRNA editing.
View Article and Find Full Text PDFCopper homeostasis and pregnancy complications: a comprehensive review.
J Assist Reprod Genet
January 2025
Department of Obstetrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Pregnancy complications pose challenges for both pregnant women and obstetricians globally, with the pathogenesis of many remaining poorly understood. Recently coined as a mode of cell death, cuproptosis has been proposed but remains largely unexplored. This process involves copper overload, resulting in the accumulation of fatty acylated proteins and subsequent loss of iron-sulfur cluster proteins.
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