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Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome.
Front Neurol
January 2024
Division of Neurosurgery, Children's Hospital of Orange County, Orange, CA, United States.
Introduction: Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is a rare inherited metabolic condition caused by gene mutations. This gene encodes a protein essential for fatty acid synthesis, and defects cause progressively worsening childhood-onset dystonia, optic atrophy, and basal ganglia abnormalities. Deep brain stimulation (DBS) has shown mixed improvement in other childhood-onset dystonia conditions.
View Article and Find Full Text PDFA novel lipid metabolism-based risk model associated with immunosuppressive mechanisms in diffuse large B-cell lymphoma.
Lipids Health Dis
January 2024
Department of Hematology, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Background: The molecular diversity exhibited by diffuse large B-cell lymphoma (DLBCL) is a significant obstacle facing current precision therapies. However, scoring using the International Prognostic Index (IPI) is inadequate when fully predicting the development of DLBCL. Reprogramming lipid metabolism is crucial for DLBCL carcinogenesis and expansion, while a predictive approach derived from lipid metabolism-associated genes (LMAGs) has not yet been recognized for DLBCL.
View Article and Find Full Text PDFRecessive 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.
View Article and Find Full Text PDFHuman skeletal muscle methylome after low-carbohydrate energy-balanced exercise.
Am J Physiol Endocrinol Metab
May 2023
Research Institute for Sport and Exercise Sciences, John Moores University, Liverpool, United Kingdom.
We aimed to investigate the human skeletal muscle (SkM) DNA methylome after exercise in low-carbohydrate (CHO) energy-balance (with high-fat) conditions compared with exercise in low-CHO energy-deficit (with low-fat) conditions. The objective was to identify novel epigenetically regulated genes and pathways associated with "train-low sleep-low" paradigms. The sleep-low conditions included nine males that cycled to deplete muscle glycogen while reaching a set energy expenditure.
View Article and Find Full Text PDFIdentification and validation of hub genes for diabetic retinopathy.
PeerJ
September 2021
Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Background: Diabetic retinopathy (DR) is characterized by a gradually progressive alteration in the retinal microvasculature that leads to middle-aged adult acquired persistent blindness. Limited research has been conducted on DR pathogenesis at the gene level. Thus, we aimed to reveal novel key genes that might be associated with DR formation via a bioinformatics analysis.
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