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Lipid Nanoparticle-Mediated Liver-Specific Gene Therapy for Hemophilia B.
Pharmaceutics
November 2024
Centre for Stem Cell Research (CSCR) (a Unit of inStem, Bengaluru), Christian Medical College Campus, Vellore 632002, Tamil Nadu, India.
/: Hemophilia B is a hereditary bleeding disorder due to the production of liver malfunctional factor IX (FIX). Gene therapy with viral vectors offers a cure. However, applications are limited due to pre-existing antibodies, eligibility for children under 12 years of age, hepatotoxicity, and excessive costs.
View Article and Find Full Text PDFImpaired mitochondrial morphological plasticity and failure of mitophagy associated with the G11778A mutation of LHON.
Biochem Biophys Res Commun
August 2024
Centre for Cell Biology, Development, and Disease, and the Department of Biological Sciences, Simon Fraser University, Canada. Electronic address:
Mitochondrial dynamics were examined in human dermal fibroblasts biopsied from a confirmed Leber's Hereditary Optic Neuropathy (LHON) patient with a homoplasmic G11778A mutation of the mitochondrial genome. Expression of the G11778A mutation did not impart any discernible difference in mitochondrial network morphology using widefield fluorescence microscopy. However, at the ultrastructural level, cells expressing this mutation exhibited an impairment of mitochondrial morphological plasticity when forced to utilize oxidative phosphorylation (OXPHOS) by transition to glucose-free, galactose-containing media.
View Article and Find Full Text PDFGalactose-replacement unmasks the biochemical consequences of the G11778A mitochondrial DNA mutation of LHON in patient-derived fibroblasts.
Exp Cell Res
June 2024
Department of Biological Sciences and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, BC, Canada. Electronic address:
Leber's hereditary optic neuropathy (LHON) is a visual impairment associated with mutations of mitochondrial genes encoding elements of the electron transport chain. While much is known about the genetics of LHON, the cellular pathophysiology leading to retinal ganglion cell degeneration and subsequent vision loss is poorly understood. The impacts of the G11778A mutation of LHON on bioenergetics, redox balance and cell proliferation were examined in patient-derived fibroblasts.
View Article and Find Full Text PDFEffect of Protection Polymer Coatings on the Performance of an Amperometric Galactose Biosensor in Human Plasma.
Biosensors (Basel)
March 2024
Instituto de Catálisis y Petroleoquímica, CSIC, c/Marie Curie 2, 28049 Madrid, Spain.
Galactose monitoring in individuals allows the prevention of harsh health conditions related to hereditary metabolic diseases like galactosemia. Current methods of galactose detection need development to obtain cheaper, more reliable, and more specific sensors. Enzyme-containing amperometric sensors based on galactose oxidase activity are a promising approach, which can be enhanced by means of their inclusion in a redox polymer coating.
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