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The DnaJ-Hsp70-Hsp90 co-chaperon networks in scallops under toxic Alexandrium dinoflagellates exposure.
Ecotoxicol Environ Saf
January 2025
MOE Key Laboratory of Marine Genetics and Breeding, College of Marine Life Sciences (Qingdao 266003), and Key Laboratory of Tropical Aquatic Germplasm of Hainan Province, Sanya Oceanographic Institution (Sanya 572024), Ocean University of China, China. Electronic address:
Heat shock proteins (Hsps) are highly conserved molecular chaperones with essential roles against biotic and abiotic stressors. A large set of co-chaperons comprising J-domain proteins (DnaJs) regulate the ATPase cycle of Hsp70s with Hsp90s, together constituting a dynamic and functionally versatile network for protein folding/unfolding and regulation. Marine bivalves could accumulate and tolerate paralytic shellfish toxins (PSTs), the well-noted neurotoxins generated during harmful algal blooms.
View Article and Find Full Text PDFElectroretinographic oscillatory potentials in Leber hereditary optic neuropathy.
Doc Ophthalmol
June 2024
Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000, Ljubljana, Slovenia.
Purpose: Leber hereditary optic neuropathy (LHON) affects retinal ganglion cells causing severe vision loss. Pattern electroretinogram and photopic negative response (PhNR) of the light-adapted (LA) full-field electroretinogram (ERG) are typically affected in LHON. In the present study, we evaluated dark-adapted (DA) and LA oscillatory potentials (OPs) of the flash ERG in genetically characterized LHON patients to dissociate slow from fast components of the response.
View Article and Find Full Text PDFCase report: Mutations in causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Front Neurol
December 2023
Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
Background: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutations in mitochondrial DNA (mtDNA); however, recent studies have identified an autosomal recessive form of LHON (arLHON) caused by point mutations in the nuclear gene, .
Case Presentations: In this study, we report the cases of three Eastern European individuals presenting with bilateral painless visual loss, one of whom was also exhibiting motor symptoms.
Recessive pathogenic variants cause an LHON-like optic neuropathy.
J Med Genet
December 2023
Programma di Neurogenetica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy
Background: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in nuclear genes , and . MCAT is part of mitochondrial fatty acid synthesis (mtFAS), as also MECR, the mitochondrial trans-2-enoyl-CoA reductase.
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